Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
The coordination of a sensory or ideational (cognitive) process and a motor activity.
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Structured vocabularies describing concepts from the fields of biology and relationships between concepts.
A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.
A specified list of terms with a fixed and unalterable meaning, and from which a selection is made when CATALOGING; ABSTRACTING AND INDEXING; or searching BOOKS; JOURNALS AS TOPIC; and other documents. The control is intended to avoid the scattering of related subjects under different headings (SUBJECT HEADINGS). The list may be altered or extended only by the publisher or issuing agency. (From Harrod's Librarians' Glossary, 7th ed, p163)
Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.
A competitive nine-member team sport including softball.
Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686)
Sound that expresses emotion through rhythm, melody, and harmony.
Movement of a part of the body for the purpose of communication.
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Focusing on certain aspects of current experience to the exclusion of others. It is the act of heeding or taking notice or concentrating.
Lists of persons or organizations, systematically arranged, usually in alphabetic or classed order, giving address, affiliations, etc., for individuals, and giving address, officers, functions, and similar data for organizations. (ALA Glossary of Library and Information Science, 1983)
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A characteristic symptom complex.
The genetic complement of a helminth (HELMINTHS) as represented in its DNA.
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
Small proteinaceous infectious particles which resist inactivation by procedures that modify NUCLEIC ACIDS and contain an abnormal isoform of a cellular protein which is a major and necessary component. The abnormal (scrapie) isoform is PrPSc (PRPSC PROTEINS) and the cellular isoform PrPC (PRPC PROTEINS). The primary amino acid sequence of the two isoforms is identical. Human diseases caused by prions include CREUTZFELDT-JAKOB SYNDROME; GERSTMANN-STRAUSSLER SYNDROME; and INSOMNIA, FATAL FAMILIAL.
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Abnormal isoform of prion proteins (PRIONS) resulting from a posttranslational modification of the cellular prion protein (PRPC PROTEINS). PrPSc are disease-specific proteins seen in certain human and animal neurodegenerative diseases (PRION DISEASES).
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Freedom from activity.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
A meshlike structure composed of interconnecting nerve cells that are separated at the synaptic junction or joined to one another by cytoplasmic processes. In invertebrates, for example, the nerve net allows nerve impulses to spread over a wide area of the net because synapses can pass information in any direction.
Neural tracts connecting one part of the nervous system with another.
Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.
Facilities which provide information concerning poisons and treatment of poisoning in emergencies.
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
A soft, grayish metal with poisonous salts; atomic number 82, atomic weight 207.19, symbol Pb. (Dorland, 28th)
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.
A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.

Non-motor associative learning in patients with isolated degenerative cerebellar disease. (1/486)

In recent decades it has become clear that the cerebellum is involved in associative motor learning, but its exact role in motor learning as such is still controversial. Recently, a contribution of the cerebellum to different cognitive abilities has also been considered, but it remains unclear whether the cerebellum contributes to cognitive associative learning. We compared nine patients with an isolated cerebellar degenerative disease in a cognitive associative learning task with 10 controls. Patients and controls were matched for age, sex, handedness, level of education, intelligence and capabilities of visual memory. The subjects were asked to learn the association between six pairs of colours and numerals by trial and error. Additionally, a simple reaction time and a visual scanning test were conducted in order to control for the influence of motor performance deficits in cerebellar patients. In comparison with the controls, it took the patients significantly longer to learn the correct associations between colours and numerals, and they were impaired in recognizing them later on. Two patients showed no associative learning effect at all. Neither the simple reaction time nor the visual scanning time correlated substantially with the results of associative learning. Therefore, motor-associated disabilities are unlikely to be the reason for the learning deficit in cerebellar patients. Our results suggest that the cerebellum might contribute to motor-independent processes that are generally involved in associative learning.  (+info)

Contralateral deafness following unilateral suboccipital brain tumor surgery in a patient with large vestibular aqueduct--case report. (2/486)

A 68-year-old female developed contralateral deafness following extirpation of a left cerebellopontine angle epidermoid cyst. Computed tomography showed that large vestibular aqueduct was present. This unusual complication may have been caused by an abrupt pressure change after cerebrospinal fluid release, which was transmitted through the large vestibular aqueduct and resulted in cochlear damage.  (+info)

Anticonvulsant-induced dyskinesias: a comparison with dyskinesias induced by neuroleptics. (3/486)

Anticonvulsants cause dyskinesias more commonly than has been appreciated. Diphenylhydantoin (DPH), carbamazepine, primidone, and phenobarbitone may cause asterixis. DPH, but not other anticonvulsants, may cause orofacial dyskinesias, limb chorea, and dystonia in intoxicated patients. These dyskinesias are similar to those caused by neuroleptic drugs and may be related to dopamine antagonistic properties possessed by DPH.  (+info)

Intrameatal aneurysm successfully treated by meatal loop trapping--case report. (4/486)

A 77-year-old female presented with a rare intrameatal aneurysm manifesting as sudden onset of headache, hearing loss, tinnitus, and vertigo associated with subarachnoid hemorrhage. Meatal loop trapping was performed. After surgery, the patient's functions recovered almost completely, probably because of the preservation of the 7th and 8th cranial nerves and the presence of effective collaterals in the area supplied by the anterior inferior cerebellar artery.  (+info)

Remote regional cerebral blood flow consequences of focused infarcts of the medulla, pons and cerebellum. (5/486)

The aim of this study was to evaluate regional and remote diaschisis of inferior brain stem or cerebellar infarcts in 25 patients presenting with relatively limited lesions. Patients presented with medullary, pontine or cerebellar infarction. METHODS: Lesions were evaluated on MRI (0.5 T). Regional cerebral blood flow (rCBF) was assessed by means of SPECT, after injection of 9rmTc-hexamethyl propyleneamine oxime (HMPAO) and, when possible, inhalation of 133Xe in the same session. For each method, asymmetry indices (Als), comparing contralateral to ipsilateral rCBF values, were calculated in four areas of each cerebral hemisphere and in the cerebellum and later compared with values obtained in healthy subjects (P = 0.05). RESULTS: Higher rCBF values were observed in the contralateral cerebellum in 2 of 7 patients with selective lateral medullary lesions, and cerebellar Als were significantly increased. When a cerebellar infarct was associated with a lateral medullary lesion, the cerebellar and contralateral hemispheric asymmetries were more severe. Unilateral paramedian pontine infarcts had more frequent consequences on the cerebellum (2 of 3 cases), with rCBF or tracer uptake being reduced in the ipsilateral or the contralateral lobe. Inverse cerebral hemispheric asymmetry could then be observed. Bilateral pontine lesions were difficult to evaluate. Using 99mTc-HMPAO, discrete cerebellar asymmetry was observed in 3 of 6 cases. Pure cerebellar infarcts in the posterior inferior cerebellar artery territory were always associated with a severe ipsilateral flow drop in the cerebellum, and contralateral hemispheric diaschisis was frequent (3 of 4 patients), predominating in the frontotemporal cortex and subcortical structures. This was also more obvious using 99mTC-HMPAO than 133Xe. Variance analysis showed that hemispheric diaschisis was more severe in mixed brain stem and cerebellar infarcts than in pure cerebellar or brain stem lesions. Furthermore, cerebellar and hemispheric AI values were not correlated with measurements of clinical deficits, disability or handicap. CONCLUSION: Unilateral and limited inferior brain stem lesions can have ipsi- or contralateral consequences on the cerebellum and cerebral hemispheres rCBF. These remote effects are related to lesions of the main pathways joining these structures, resulting in deactivation and, in some cases, overactivation. Contrary to what has been suggested, consequences on cerebral hemispheres are more severe in mixed cerebellar and brain stem infarcts than in pure cerebellar lesions.  (+info)

Multiple large and small cerebellar infarcts. (6/486)

To assess the clinical, topographical, and aetiological features of multiple cerebellar infarcts,18 patients (16.5% of patients with cerebellar infarction) were collected from a prospective acute stroke registry, using a standard investigation protocol including MRI and magnetic resonance angiography. Infarcts in the posterior inferior cerebellar artery (PICA)+superior cerebellar artery (SCA) territory were most common (9/18; 50%), followed by PICA+anterior inferior cerebellar artery (AICA)+SCA territory infarcts (6/18; 33%). One patient had bilateral AICA infarcts. No infarct involved the PICA+AICA combined territory. Other infarcts in the posterior circulation were present in half of the patients and the clinical presentation largely depended on them. Large artery disease was the main aetiology. Our findings emphasised the common occurrence of very small multiple cerebellar infarcts (<2 cm diameter). These very small multiple cerebellar infarcts may occur with (13 patients/18; 72%) or without (3/18; 22%) territorial cerebellar infarcts. Unlike previous series, they could not all be considered junctional infarcts (between two main cerebellar artery territories: 51/91), but also small territorial infarcts (40/91). It is suggested that these very small territorial infarcts may be endzone infarcts, due to the involvement of small distal arterial branches. It is possible that some very small territorial infarcts may be due to a microembolic process, but this hypothesis needs pathological confirmation.  (+info)

Failure of cerebellar patients to time finger opening precisely causes ball high-low inaccuracy in overarm throws. (7/486)

We investigated the idea that the cerebellum is required for precise timing of fast skilled arm movements by studying one situation where timing precision is required, namely finger opening in overarm throwing. Specifically, we tested the hypothesis that in overarm throws made by cerebellar patients, ball high-low inaccuracy is due to disordered timing of finger opening. Six cerebellar patients and six matched control subjects were instructed to throw tennis balls at three different speeds from a seated position while angular positions in three dimensions of five arm segments were recorded at 1,000 Hz with the search-coil technique. Cerebellar patients threw more slowly than controls, were markedly less accurate, had more variable hand trajectories, and showed increased variability in the timing, amplitude, and velocity of finger opening. Ball high-low inaccuracy was not related to variability in the height or direction of the hand trajectory or to variability in finger amplitude or velocity. Instead, the cause was variable timing of finger opening and thereby ball release occurring on a flattened arc hand trajectory. The ranges of finger opening times and ball release times (timing windows) for 95% of the throws were on average four to five times longer for cerebellar patients; e.g., across subjects mean ball release timing windows for throws made under the medium-speed instruction were 11 ms for controls and 55 ms for cerebellar patients. This increased timing variability could not be explained by disorder in control of force at the fingers. Because finger opening in throwing is likely controlled by a central command, the results implicate the cerebellum in timing the central command that initiates finger opening in this fast skilled multijoint arm movement.  (+info)

Preserved performance by cerebellar patients on tests of word generation, discrimination learning, and attention. (8/486)

Recent theories suggest that the human cerebellum may contribute to the performance of cognitive tasks. We tested a group of adult patients with cerebellar damage attributable to stroke, tumor, or atrophy on four experiments involving verbal learning or attention shifting. In experiment 1, a verb generation task, participants produced semantically related verbs when presented with a list of nouns. With successive blocks of practice responding to the same set of stimuli, both groups, including a subset of cerebellar patients with unilateral right hemisphere lesions, improved their response times. In experiment 2, a verbal discrimination task, participants learned by trial and error to pick the target words from a set of word pairs. When age was taken into account, there were no performance differences between cerebellar patients and control subjects. In experiment 3, measures of spatial attention shifting were obtained under both exogenous and endogenous cueing conditions. Cerebellar patients and control subjects showed similar costs and benefits in both cueing conditions and at all SOAs. In experiment 4, intra- and interdimensional shifts of nonspatial attention were elicited by presenting word cues before the appearance of a target. Performance was substantially similar for cerebellar patients and control subjects. These results are presented as a cautionary note. The experiments failed to provide support for current hypotheses regarding the role of the cerebellum in verbal learning or attention. Alternative interpretations of previous results are discussed.  (+info)

Learn more about Cerebellar Stroke at TriStar Southern Hills DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Chapter 11 - Joubert Syndrome and Related Disorders. Enza Maria Valente, Francesco Brancati, and Bruno Dallapiccola. Joubert syndrome and related disorders (JSRD) are a group of highly heterogeneous conditions sharing a complex midbrain-hindbrain malformation known as the molar tooth sign (MTS). The main neurologic features include some or all of the following: hypotonia, ataxia, developmental delay, intellectual disability, altered breathing pattern in the neonatal period and abnormal eye movement. These are variably associated with multiorgan manifestations, mainly of the retina, kidneys, and liver. Such clinical variability requires a multidisciplinary approach for diagnosis and management.. Please note that Chapters 7-22 are also available in Part 4: Malformations.. About the Complete Book:. This clinically orientated text by an international group of experts is the first definitive reference book on disorders of the cerebellum in children. It presents a wealth of practical clinical ...
Illustration for the article: Remote cerebellar haemorrhage. Funes T, González Abbati S, Clar F, Zaninovich R, Mormandi R, Stella O. Rev Argent Neuroc 2010.
ataxia consist of gait impairment, unclear (scanning) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. These result from the involvement of the cerebellum and its afferent and efferent pathways, including the spinocerebellar pathways, and the frontopontocerebellar pathway originating in the rostral frontal lobe. True cerebellar ataxia must be distinguished from ataxia associated with vestibular nerve or labyrinthine disease, as the latter results in a disorder of gait associated with a significant degree of dizziness, light-headedness, or the perception of movement (Chap. 21). True cerebellar ataxia is devoid of these vertiginous complaints and is clearly an unsteady gait due to imbalance. Sensory disturbances can also on occasion simulate the imbalance of cerebellar disease; with sensory ataxia, imbalance dramatically worsens when visual input is removed (Romberg sign). Rarely, weakness of proximal leg muscles mimics cerebellar disease. In the patient ...
UCL Discovery is UCLs open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
The cerebellum, principally a motor organ, is responsible for the coordination of movements, especially skilled voluntary ones, the control of posture and gait, and the regulation of muscular tone. In the last decade it has come to be appreciated that the cerebellum may play a role in the modulation of the emotional state and some aspects of cognition. The mechanisms by which these functions are accomplished have been the subject of intense investigation by anatomists and physiologists. Their studies have yielded a mass of data, testimony to the complexity of the organization of the cerebellum and its afferent and efferent connections. A coherent picture of cerebellar function is now emerging, although it is not yet possible, with a few notable exceptions, to relate each of the symptoms of cerebellar disease to a derangement of a discrete anatomic or functional unit of the cerebellum. ...
The term diaschisis refers to a neural dysfunction manifesting in anatomically intact, but functionally related, brain regions distant from a primary lesion. Here we report the diaschisis phenomenon as a consequence of a first demyelinating event in the middle and superior cerebellar peduncles in both the ipsilateral cerebellar hemisphere and in the contralateral thalamus and cerebral cortex (two-way crossed cerebellar diaschisis), resulting in the simultaneous disruption of the afferent cortico-ponto-cerebellar pathway and the efferent cerebellar-thalamo-cortical pathway. The use of 18F-FDG-PET could help clarifying in vivo the distant pathophysiological effect of focal lesions in inflammatory diseases such as multiple sclerosis.. ...
List of 61 causes for Cerebellar lesions and Osteomyelitis and Unusual sputum odour in children, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
It is widely accepted that action and perception in humans functionally interact on multiple levels. Moreover, areas originally suggested to be predominantly motor-related, as the cerebellum, are also involved in action observation. However, as yet, few studies provided unequivocal evidence that the cerebellum is involved in the action perception coupling (APC), specifically in the integration of motor and multisensory information for perception. We addressed this question studying patients with focal cerebellar lesions in a virtual-reality paradigm measuring the effect of action execution on action perception presenting self-generated movements as point lights. We measured the visual sensitivity to the point light stimuli based on signal detection theory. Compared with healthy controls cerebellar patients showed no beneficial influence of action execution on perception indicating deficits in APC. Applying lesion symptom mapping, we identified distinct areas in the dentate nucleus and the ...
Remote cerebellar hemorrhage A remote cerebellar hemorrhage (RCH) is a spontaneous bleeding in the posterior fossa. Epidemiology Is a very rare complication of supratentorial surgery, with a reported incidence of 0,08% . RCH after burr hole trephinations for CSDH is even rarer, with an incidence of 0,14%
While gray matter volume increase was larger in cerebral areas in patients compared with controls, the opposite was found in the cerebellum, with a more pronounced increase in gray matter volume in controls compared with patients. This implies that motor improvements in patients with cerebellar degeneration appear to be driven by cerebral structures unaffected by the disease. In both cerebellar patients and controls, gray matter changes were found in supratentorial areas known to contribute to various aspects and stages of motor learning. In cerebellar patients, most changes were observed in the frontal cortex, whereas gray matter changes in occipitotemporal areas and basal ganglia prevailed in healthy controls.. We found no evidence to substantiate the claim that cerebellar patients increasingly recruit the basal ganglia circuits to compensate for their motor deficit (Wessel et al., 1995). In the patient group, the most compelling change in gray matter volume was seen in the dorsal premotor ...
Joubert syndrome is an autosomal - recessive developmental disorder with an incidence of approximately 1:100 000. It is characterized by cerebellar vermis hypoplasia, cerebellar ataxia, muscular hypotension, oculomotor apraxia, neonatal respiratory distress, mental retardation as well as retinal degeneration. It is therefore also described as cerebello-oculo-renal syndrome. Additionally Joubert syndrome can be associated with hepatic fibrosis, ocular coloboma and polydactyly. There is a high phenotypic variability even within families. The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called molar tooth sign.. Approximately 25% of patients with JS present with NPH depending on the underlying genetic defect. At the moment mutations in 22 genes are known to cause JS of witch AHI1, RPGRIP1L and CC2DA2 are the most frequently affected accounting for 10% of JS cases each.. Due to clinical and genetic overlap JS is hard to differentiate from other ...
The cerebellum: Once the movement of the arm is initiated, sensory information is needed to guide the finger to its precise destination. In addition to sight, the most important source of information comes from the position sense provided by the many sensory neurons located within the limbs (proprioception). Proprioception is what allows an individual to touch their nose with their finger even with the eyes closed. The balance organs in the ears provide important information about posture. Both postural and proprioceptive information are processed by a structure at the rear of the brain called the cerebellum. The cerebellum sends out electrical signals to modify movements as they progress, organizing the voluntary commands into a tightly controlled pattern. Cerebellar disorders cause ataxia (inability to control the force, fine positioning, and speed of movements). Disorders of the cerebellum may also impair the ability to judge distance so that a person under- or overreaches the target ...
Background and purpose Arterial spin-labeling (ASL) was recently introduced as a noninvasive method to evaluate cerebral hemodynamics. The purposes of this study were to assess the ability of ASL imaging to detect crossed cerebellar diaschisis (CCD) in patients with their first unilateral supratentorial hyperacute stroke and to identify imaging or clinical factors significantly associated with CCD. Materials and methods We reviewed 204 consecutive patients who underwent MRI less than 8 hours after the onset of stroke symptoms. The inclusion criteria were supratentorial abnormality in diffusion-weighted images in the absence of a cerebellar or brain stem lesion, bilateral supratentorial infarction, subacute or chronic infarction, and MR angiography showing vertebrobasilar system disease. For qualitative analysis, asymmetric cerebellar hypoperfusion in ASL images was categorized into 3 grades. Quantitative analysis was performed to calculate the asymmetric index (AI). The patients demographic and
Cerebellum & Ataxias, sister journal to The Cerebellum, is an open access journal devoted to cerebellar research and cerebellar disorders, including ...
Cerebellum & Ataxias, sister journal to The Cerebellum, is an open access journal devoted to cerebellar research and cerebellar disorders, including ...
Three neuropsychological experiments on a group of 16 cerebellar patients and 16 age-and education-matched controls investigated the effects of damage to the cerebellum on English grammatical morphology across production, comprehension, and grammaticality judgment tasks. In Experiment 1, participants described a series of pictures previously used in studies of cortical aphasic patients. The cerebellar patients did not differ significantly from the controls in the total number of words produced or in the proportion of closed-class words. They did differ to a marginally significant extent in the production of required articles. In Experiment 2, participants identified the agent in a series of aurally presented sentences in which three agency cues (subject-verb agreement, word order, and noun animacy) were manipulated. The cerebellar patients were less affected than the controls were by the manipulation of subject-verb agreement to a marginally significant extent. In Experiment 3, participants ...
Spinocerebellar ataxia 42 (SCA42) [MIM:616795]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42 is a slowly progressive, autosomal dominant form with variable severity. {ECO:0000269,PubMed:26456284, ECO:0000269,PubMed:26715324}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Caggiano V, Giese MA, Thier P, Casile A (2015) Encoding of point of view during action observation in the Local Field Potentials of macaque area F5. European Journal of Neuroscience 41(4):466-476. Ilg W, Bastian A, Boesch S, Burciu R, Celnik P, Claassen J et al. (2014) Consensus Paper: Management of Degenerative Cerebellar Disorders. Cerebellum 13(2):248-268. Giese MA (2014) Mirror representations innate versus determined by experience: A viewpoint from learning theory. Behavioural and Brain Sciences 37(2):201-202. Christensen A, Giese MA, Sultan F, Mueller OM, Goericke SL, Ilg W et al. (2014) An intact action-perception coupling depends on the integrity of the cerebellum. Journal of Neuroscience 34(19):6707-6716. Fleischer F, Caggiano V, Thier P, Giese MA (2013) Physiologically inspired model for the visual recognition of transitive hand actions. Journal of Neuroscience 15(33):6563-6580. Caggiano V, Pomper JK, Fleischer F, Fogassi L, Giese MA, Thier P (2013) Mirror neurons in monkey area F5 do ...
Neurodegenerative diseases (NDD) are a group of illness with diverse clinical importance and etiologies. NDD include motor neuron disease such as amyotrophic lateral sclerosis (ALS), cerebellar disorders, Parkinsons disease (PD), Huntingtons disease (HD), cortical destructive Alzheimers disease ( …
Inclusion Criteria: - Age ≥18 years - Acute cerebral ischemia due to occlusion of the internal carotid or middle cerebral artery - NIHSS 8-25 (inclusive) - Persistent arterial occlusion (defined as TICI 0 or 1) following failed mechanical revascularization (ref Table 2) - Able to undergo NeuroFlo treatment within 18 hours of symptom onset (or from last time known normal) - Informed consent from patient or legally authorized representative - Negative pregnancy test in females of child-bearing potential Exclusion Criteria: - Etiology other than cerebral ischemia - Acute hypodense parenchymal lesion or effacement of cerebral sulci in more than 1/3 of the middle cerebral artery territory - Brainstem or cerebellar stroke - Systolic blood pressure (BP) >220 mm Hg, or diastolic (BP) >140 mm Hg that cannot be lowered with medical management - Any use of intravenous or intra-arterial thrombolytic medication - Known secured or unsecured cerebral aneurysm or vascular malformation on CTA or MRA or history ...
A role for the cerebellum in cognition has been proposed based on studies suggesting a profile of cognitive deficits due to cerebellar stroke. Such studies are limited in the determination of the detailed organisation of cerebellar subregions that ar
Stroke Survivors is a website for stroke victims, particularly Cerebellar stroke victims who are in a minority. However any stroke victim should find some useful information, at least that is my intention. The site was developed and is maintained by myself; John DArcy
Stroke Survivors is a website for stroke victims, particularly Cerebellar stroke victims who are in a minority. However any stroke victim should find some useful information, at least that is my intention. The site was developed and is maintained by myself; John DArcy
The item is aimed at finding evidence of a unilateral cerebellar lesion. Test with eyes open. In case of visual defect, ensure testing is done in intact visual field. The finger-nose-finger and heel-shin tests are performed on both sides, and ataxia is scored only if present out of proportion to weakness. Ataxia is absent in the patient who cannot understand or is paralyzed. Only in the case of amputation or joint fusion, the examiner should record the score as untestable (UN), and clearly write the explanation for this choice. In case of blindness, test by having the patient touch nose from extended arm position ...
We know that when the cerebellum is damaged, it causes movement disorders in both speech and non-speech actions, says UW-Madison Waisman Center investigator Ben Parrell. What we dont understand is why cerebellar damage leads to these disorders.. So Parrell, who is a new assistant professor of communication sciences and disorders at UW-Madison, set out to investigate.. In a recent study, he and his colleagues discovered that damage to the cerebellum diminishes our ability to predict consequences of an action and issue specific motor commands to the body - what researchers call feedforward control.. Diminished feedforward - or predictive - control could explain speech difficulties often faced by individuals with cerebellar damage.. If you can correctly predict what will happen after an action - like trying to say a specific word, for example - you can do things more fluidly, more rapidly because you dont need to monitor outcomes in real time, says Parrell.. In contrast, without properly ...
The timing and duration of alcohol exposure was manipulated in neonatal rats by using a binge model of alcohol exposure during the third trimester equivalent. Groups of Sprague-Dawley rats were exposed to binges via artificial rearing on postnata
Jun Hu, Jin Qian, Oleg Borisov, Sanqiang Pan, Yan Li, Tong Liu, Longwen Deng, Kenneth Wannemacher, Michael Kurnellas, Christa Patterson, Stella Elkabes, Hong Li
The cerebellum has been considered only as a classical subcortical center for motor control. However, accumulating experimental and clinical evidences have revealed that the cerebellum also plays an important role in cognition, for instance, in learning and memory, as well as in emotional behavior and in nonsomatic activities, such as visceral and immunological responses. Although it is not yet clear through which pathways such cerebellar nonsomatic functions are mediated, the direct bidirectional connections between the cerebellum and the hypothalamus, a high autonomic center, have recently been demonstrated in a series of neuroanatomical investigations on a variety of mammals and indicated to be potential pathways underlying the cerebellar autonomic modulation. The direct hypothalamocerebellar projections originate from the widespread hypothalamic nuclei/areas and terminate in both the cerebellar cortex as multilayered fibers and the cerebellar nuclei. Immunohistochemistry studies have offered ...
Question - Suffered a brain stroke, vomiting tendency. MRI shows acute cerebellar infarcts. How to cure nausea?. Ask a Doctor about uses, dosages and side-effects of Ondansetron, Ask a Neurologist
49yr old man with pT4 Sq cell cancer, post adjuvant chemotherapy for local RT detected to have cerebellar lesion , radically treated, ? role of adjuvant RT to the primary tumour bed ...
University of Bristol - person profile - Bristol Neuroscience - Professor Richard Apps - Cerebellar contributions to movement control
Title:Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders. VOLUME: 17 ISSUE: 1. Author(s):Roger Kalla and Michael Strupp*. Affiliation:Department of Neurology, German Center for Vertigo and Balance Disorders, and Institute for Clinical Neurosciences, University Hospital Munich, Campus Grosshadern, Munich, Department of Neurology, German Center for Vertigo and Balance Disorders, and Institute for Clinical Neurosciences, University Hospital Munich, Campus Grosshadern, Munich. Keywords:Cerebellar ataxia, central vestibular disorders, aminopyridines, 4-aminopyridine, episodic ataxia type 2, downbeat nystagmus, acetyl-DL-leucine.. Abstract:Cerebellar ataxia is a frequent and often disabling syndrome severely impairing motor functioning and quality of life. Patients suffer from reduced mobility, and restricted autonomy, experiencing an even lower quality of life than, e.g., stroke survivors. Aminopyridines have been demonstrated viable for the symptomatic treatment of certain ...
Chapter 37 - Acute Inflammatory Diseases of the Cerebellum. Marc Tardieu. Acute ataxia may be the consequence of an inflammatory reaction within the central nervous system (CNS). In this chapter, after a short overview on neuroimmunological aspects, the most classic benign acute inflammatory cerebellar ataxia will be reviewed, followed by a discussion of more severe forms. Acute cerebellar ataxia is sometimes differentiated, in reviews and chapters, from acute cerebellitis, the latter being more severe (Gill 2010). In this chapter the two terms are considered as equivalent with benign and severe forms, acute cerebellar ataxia being a clinical description and acute cerebellitis referring to the pathophysiology. In the later section, the autoimmune diseases, which may start as an acute infl ammatory cerebellar ataxia but are usually relapsing, will be reviewed, followed by a discussion of differential diagnosis. The four chapters in Part 8: Acute Ataxia provide a detailed overview of the causes ...
Enterococci are uncommon etiologic agents of central nervous system infections. We describe a case of nosocomial encephalitis and concurrent cerebellitis associated with Enterococcus faecium in a man, with extranodal natural killer/T-cell lymphoma, nasal type, who underwent high-dose chemotherapy and autologous peripheral blood stem cell transplantation. Brain magnetic resonance images showed lesions in the bihemispheral cerebellar cortex with swelling and several small lesions in both cerebral hemispheres. The blood and cerebrospinal fluid cultures were positive for vancomycin-resistant E. faecium. Vancomycin-resistant E. faecium can cause encephalitis and concurrent cerebellitis in an immunocompromised patient who underwent autologous peripheral blood stem cell transplantation ...
TY - GEN. T1 - Landmark based shape analysis for cerebellar ataxia classification and cerebellar atrophy pattern visualization. AU - Yang, Zhen. AU - Abulnaga, S. Mazdak. AU - Carass, Aaron. AU - Kansal, Kalyani. AU - Jedynak, Bruno M.. AU - Onyike, Chiadikaobi U. AU - Ying, Sarah H.. AU - Prince, Jerry Ladd. PY - 2016. Y1 - 2016. N2 - Cerebellar dysfunction can lead to a wide range of movement disorders. Studying the cerebellar atrophy pattern associated with different cerebellar disease types can potentially help in diagnosis, prognosis, and treatment planning. In this paper, we present a landmark based shape analysis pipeline to classify healthy control and different ataxia types and to visualize the characteristic cerebellar atrophy patterns associated with different types. A highly informative feature representation of the cerebellar structure is constructed by extracting dense homologous landmarks on the boundary surfaces of cerebellar sub-structures. A diagnosis group classifier based on ...
Acute cerebellitis and acute cerebellar ataxia represent a spectrum of inflammatory processes characterized by sudden onset cerebellar dysfunction. It usually affects children and is related as a consequence of primary or secondary infection, or ...
From UniProt:. Spinocerebellar ataxia, autosomal recessive, 13 (SCAR13): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. [MIM:614831]. Spinocerebellar ataxia 44 (SCA44): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA44 is a slowly ...
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far. The most common SCAs, which together account for more than half of all affected families, are SCA1, SCA2, SCA3, and SCA6. Each of these disorders is caused by a translated CAG repeat expansion mutation. SCA1, SCA2, and SCA3 usually have an onset between 30 and 40, and SCA6 usually begins at the age of 50 to 60. In addition to progressive ataxia, SCA1, SCA2, and SCA3 frequently present with additional non-ataxic symptoms, including parkinsonism. Carbidopa/levodopa was found to have a good therapeutic effect on parkinsonism.. The SCA6 used to be considered a pure cerebellar disorder. However, a recent large study on natural history of SCAs found that patients with SCA6 often had nonataxia symptoms, an observation that challenges the view that SCA6 is a purely cerebellar disorder. Parkinsonism in SCA6 was rarely ...
Growing chicks maintained on a diet consisting of milk powder, casein, starch, yeast, cod liver oil, salts and filter paper develop ataxia, tremors, retraction or twisting of the head, clonic spasms of the legs, and stupor. These symptoms may appear suddenly, usually between the 18th and 25th day, and may end in death. If recovery takes place, the chicks may go on to normal development.. Definite lesions are found in the cerebellum of the affected chicks. These consist of edema, necrosis and hemorrhages. Hyaline thrombi are found in the capillaries in and about the degenerated areas.. ...
The staggerer mutant mouse carries a spontaneous mutation in the ligand-binding domain of the rora gene. RORα is expressed in many tissues and its loss leads to diverse abnormalities. In the cerebellu
We present a 7-year-old boy with acute cerebellitis who required an emergency ventriculoperitoneal shunt for hydrocephalus caused by cerebellar swelling. This represents a very unusual, potentially life-threatening complication of a usually self-limiting condition. Early diagnosis of this complication is essential in view of the propensity to sudden and fatal deterioration. Magnetic resonance imaging (MRI) is useful in differentiating this unusual course of acute cerebellar ataxia from that of a posterior fossa tumor. In developing countries, however, computed tomography (CT) is often the only existing diagnostic modality and access to MRI, when available, is limited. Our case demonstrates that the shape of the fourth ventricle on CT can be helpful in differentiating between a tumor and edema of the cerebellum and thus can assist in management ...
TY - JOUR. T1 - Cerebellar involvement in multifocal eosinophilic granuloma. T2 - Demonstration by computerized tomographic scanning. AU - Adornato, B. T.. AU - Eil, C.. AU - Head, G. L.. AU - Loriaux, Donald (Lynn). PY - 1980. Y1 - 1980. N2 - Central nervous system involvement outside the hypothalamus or pituitary in multifocal eosinophilic granuloma (MEG) is unusual. Eleven patients with MEG have been examined with cranial computerized axial tomograms (CT). Four patients with moderate to severe cerebellar dysfunction, 3 of whom had no detectable lesions by other neuroradiological techniques, were found to have cerebellar abnormalities. All of the remaining 7 patients with normal neurological examinations had normal CT scans. Computerized axial tomography is a useful technique in the evaluation of patients with MEG and neurological impairment.. AB - Central nervous system involvement outside the hypothalamus or pituitary in multifocal eosinophilic granuloma (MEG) is unusual. Eleven patients ...
Results There were 383 patients with Friedreichs ataxia (FRDA), 205 patients with SCA and 168 controls. In FRDA, 31% of the variance of cerebellar signs with the CCFS and 41% of that with SARA were explained by disease duration, age at onset and the shorter abnormal repeat in the FXN gene. Increases in CCFS and SARA scores per year were lower for FRDA than for SCA (CCFS index: 0.123±0.123 per year vs 0.163±0.179, P,0.001; SARA index: 1.5±1.2 vs 1.7±1.7, P,0.001), indicating slower cerebellar dysfunction indexes for FRDA than for SCA. Patients with SCA2 had higher CCFS scores than patients with SCA1 and SCA3, but similar SARA scores. ...
Cerebellar atrophy caused by Dilantin. Damage to the cerebellum results in lack of balance, slow movements. Severe atrophy linked to long term use of Dilantin. cerebellar degeneration include seizures
Cerebellar atrophy caused by Dilantin. Damage to the cerebellum results in lack of balance, slow movements. Severe atrophy linked to long term use of Dilantin. cerebellar degeneration include seizures
are described, all of which show no change in intensity exponential time-course withdecreasing velocity. This waveform with the removal of visual fixation in contrast to periph- eral vestibular nystagmus. Downbeat nystagmus may or may not be present in the primary position. It beats impaired neural integrator. (c)Drift of the eyes away from the directly downwards and is often accentuated in lateral gaze. When present in the primary position a disturbance of the vestibulocerebellum, drug intoxication or an (increasing velocity). Thiswaveform suggests an unstable abnormality at the cranio-cervical junction, such as a Type 1 Chiari malformation, are usually found6. These causes include cerebellar degenerations, anticonvulsant drugs, lithium intoxication and intra-axial brainstem vertically in cerebellar disease. (d)Pendular nystagmus, which is lesions. In about half of the patients with downbeat nys- tagmus, no cause can be found. Treatment can be attempted with clonazepam, baclofen, ...
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University. Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. Consequently, the most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia in early childhood. Other malformations such as polydactyly (extra ...
For many degenerative cerebellar diseases, currently, no effective treatment that would substantially restore cerebellar functions is available. Neurotransplantation could be a promising therapy for...
Dizziness, Nystagmus, Obstructive Hydrocephalus Symptom Checker: Possible causes include Arnold Chiari Malformation, Cerebellar Stroke, Cerebellar Hemorrhage. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The cerebellum is essentially involved in movement control and plays a critical role in motor learning. It has remained controversial whether patients with degenerative cerebellar disease benefit from high-intensity coordinative training. Moreover, it remains unclear by which training methods and mechanisms these patients might improve their motor performance. Here, we review evidence from different high-intensity training studies in patients with degenerative spinocerebellar disease. These studies demonstrate that high-intensity coordinative training might lead to a significant benefit in patients with degenerative ataxia. This training might be based either on physiotherapy or on whole-body controlled videogames (“exergames”). The benefit shown in these studies is equal to regaining one or more years of natural disease progression. In addition, first case studies indicate that even subjects with advanced neurodegeneration might benefit from such training programs. For both types of
The cerebellum and the motor thalamus, connected by cerebellothalamic pathways, are traditionally considered part of the motor-control system. Yet, functional imaging studies and clinical studies including patients with cerebellar disease suggest an involvement of the cerebellum in olfaction. Additionally, there are anecdotal clinical reports of olfactory disturbances elicited by electrical stimulation of the motor thalamus and its neighbouring subthalamic region. Deep brain stimulation (DBS) targeting the cerebellothalamic pathways is an effective treatment for essential tremor (ET), which also offers the possibility to explore the involvement of cerebellothalamic pathways in the sense of smell. This may be important for patient care given the increased use of DBS for the treatment of tremor disorders. Therefore, 21 none-medicated patients with ET treated with DBS (13 bilateral, 8 unilateral) were examined with Sniffin Sticks, an established and reliable method for olfactory testing. ...
Cerebellar neurons are generated from two germinal neuroepithelia: the ventricular zone (VZ) and rhombic lip. Signaling mechanisms that maintain the proliferative capacity of VZ resident progenitors remain elusive. We reveal that Sonic hedgehog (Shh) signaling is active in the cerebellar VZ and essential to radial glial cell proliferation and expansion of GABAergic interneurons. We demonstrate that the cerebellum is not the source of Shh that signals to the early VZ, and suggest a transventricular path for Shh ligand delivery. In agreement, we detected the presence of Shh protein in the circulating embryonic cerebrospinal fluid. This study identifies Shh as an essential proliferative signal for the cerebellar ventricular germinal zone, underscoring the potential contribution of VZ progenitors in the pathogenesis of cerebellar diseases associated with deregulated Shh signaling, and reveals a transventricular source of Shh in regulating neural development.. ...
When I left Goroka I stopped in Port Moresby, where I had the opportunity to meet Jettie and Vin Zigas. Vin had been an Australian medical officer in the highlands and was the first physician to study kuru in some detail (figure 1b). In 1957, he was joined by Gajdusek and, together, they wrote two landmark papers on the disease (Gajdusek & Zigas 1957; Zigas & Gajdusek 1957). I chose not to discuss with Vin my clinical findings indicating that kuru patients did not show signs of parkinsonism as he and Gajdusek had thought when they first described kuru. I rapidly developed a warm friendship with Vin and Jettie.. When I returned to New Guinea in 1980, I had the pleasure of meeting Michael Alpers, which marked the beginning of a long friendship. As with my first trip, my guides were Anua and Auyana. Together we saw an additional seven patients whose clinical examinations confirmed my previous impressions. Kuru was a cerebellar disease that eventually progressed to involve other parts of the central ...
Purkinje cell axonal swellings (torpedoes), described in several cerebellar disorders as well as essential tremor (ET), have not been quantified in common neurodegenerative conditions.
Diagnosis of neurological disease -- Episodic impairment of consciousness -- Falls and drop attacks -- Delirium -- Stupor and coma -- Brain death, vegetative state, and minimally conscious states -- Intellectual and memory impairments -- Global developmental delay and regression -- Behavior and personality disturbances -- Depression and psychosis in neurological practice -- Limb apraxias and related disorders -- Agnosias -- Aphasia and aphasic syndromes -- Dysarthria and apraxia of speech -- Neurogenic dysphagia -- Visual loss -- Abnormalities of the optic nerve and retina -- Pupillary and eyelid abnormalities -- Disturbances of smell and taste -- Cranial and facial pain -- Brainstem syndromes -- Ataxic and cerebellar disorders -- Diagnosis and assessment of Parkinson disease and other movement disorders -- Gait disorders -- Hemiplegia and monoplegia -- Paraplegia and spinal cord syndromes -- Proximal, distal, and generalized weakness -- Muscle pain and cramps -- Hypotonic (floppy) infant -- ...
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis. It encodes a protein with several domains also present in CENPF, a protein involved in chromosome segregation. CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation. NPHP6 is found at centrosomes and in the nucleus of renal epithelial cells in a cell cycle-dependent manner and in connecting cilia of photoreceptors. Abrogation of its function in zebrafish recapitulates the renal, retinal and cerebellar phenotypes of Joubert syndrome. Our findings help establish the link between centrosome function, tissue architecture and transcriptional control in the pathogenesis ...
Hearing loss is usually mild to moderate, and the audiological data suggest cochlear and/or retrocochlear involvement (4). Okay, now about the latest events. Diagnosis and treatment of tinnitus, ear noise, ringing in the ears as it relates to TMJ Neuromuscular Dentistry and treatment with Doctor John Halmaghi. These patients continue to complain of severe disequilibration and have exacerbated symptoms with a variety of visual inputs. caudate). In addition, ensuring that children with disabilities have access to the general curriculum is a major focus of the requirements for developing a childs IEP. Look for a box or option the air of the patients breathing zone, allowing the occupational asthma but not completely prevent.. Acyclovir also treats shingles and chickenpox infections. Most patients see a decrease in vertigo occurrence, while their hearing may be unaffected. Both cerebellar strokes and lateral medullary infarction (Wallenberg syndrome) typically have prominent vertigo and dizziness ...
TY - JOUR. T1 - Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. AU - Nuovo, Sara. AU - Fuiano, Laura. AU - Micalizzi, Alessia. AU - Battini, Roberta. AU - Bertini, Enrico. AU - Borgatti, Renato. AU - Caridi, Gianluca. AU - DArrigo, Stefano. AU - Elisa, Fazzi. AU - Fischetto, Rita. AU - Ghiggeri, Gian Marco. AU - Giordano, Lucio. AU - Leuzzi, Vincenzo. AU - Romaniello, Romina. AU - Signorini, Sabrina. AU - Stringini, Gilda. AU - Zanni, Ginevra. AU - Romani, Marta. AU - Valente, Enza Maria. AU - Emma, Francesco. PY - 2018. Y1 - 2018. N2 - Background. Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25-30% patients although only18% had a confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting in delayed diagnosis. The aim of ...
Cerebellar hypoplasia The cerebellum is the portion of the brain responsible for the control of motion. When a puppy or kitten is born with an underdeveloped cerebellum, the condition is known as congenital cerebellar hypoplasia. There are infectious causes of this condition in both cats (panleukopenia infection prior to birth) and dogs (herpes virus infection prior to birth). Improper development of the cerebellum may occur due to injury, poisoning or just from an accident in development in the uterus. It is generally possible to see signs of this condition almost as soon as the puppy or kitten is born. Affected animals have tremors and unusual jerky movements or may fall down when they try to move. The symptoms do not get worse as they age. As the kitten or puppy grows it will learn to compensate for its condition but there are usually lifelong signs of a decreased ability to coordinate movement. Almost all dogs and cats with congenital cerebellar hypoplasia can live happily as pets with a ...
The first aim of this thesis was to critically appraise and improve the classification of small cerebellar infarctions and to visualise arterial cerebellar perfusion territories. Although small cerebellar infarcts are traditionally classified into watershed or border zone perfusion territories, arterial perfusion territories and the border zones in between them are widely variable among subjects. Also, many infarcts do not fit into such a classification system, which hinders its use in clinical practice [1].. We proposed two answers to these limitations. The first was to omit the traditional classification and to classify small cerebellar infarctions according to anatomical location in the cerebellum instead of arterial perfusion territories [1]. The second and more challenging answer was to develop the first imaging technique to visualise cerebellar perfusion territories in vivo [2]. This way, cerebellar infarction may be directly linked with the responsible diseased artery, for instance, ...
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations.
Looking for online definition of cerebellar peduncle in the Medical Dictionary? cerebellar peduncle explanation free. What is cerebellar peduncle? Meaning of cerebellar peduncle medical term. What does cerebellar peduncle mean?
Editor-Van Royen-Kerkhof et al 1 reported two boys with Gaucher disease type 1 and Joubert syndrome (JS). Their case 1 had, in addition to mental retardation, choreoretinal colobomas, cerebellar vermis agenesis, and abnormal breathing, agenesis of the corpus callosum, hydrocephalus (no further details given), and generalised seizures. Their case 2 had prenatal hydrocephalus and fulfilled the diagnostic criteria for JS. Information about brain anatomy and retinal findings in case 2 is lacking.. We question the diagnosis of JS in these two patients. The authors cite a 1992 paper2 but fail to reference 1997 and 1998 publications that better define the phenotype and characteristic neuroimaging of JS.3-5 In these most recent publications, the molar tooth sign is defined as well as a number of distinct posterior fossa abnormalities not discussed by Van Royen-Kerkhofet al.1 This is a significant omission because vermis hypoplasia alone is not pathognomonic for JS and can be seen in mimicking ...
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Ataxias, Ataxia, Iron, Patients, Spinocerebellar Ataxias, Cerebellum, Human, Neuroimaging, Language, Memory, Retinal, Proteins, Hedgehog, Mouse, and Neural Tube
TY - JOUR. T1 - Benign traumatic intracerebellar hematoma. AU - Pozzati, E.. AU - Piazza, G.. AU - Padovani, R.. AU - Gaist, G.. PY - 1981. Y1 - 1981. N2 - Prompt surgical intervention is thought to be necessary in patients with traumatic intracerebellar hematoma. The case reported here ran a benign course without operation. Pertinent serial computed tomographic scans are presented. It is concluded that not all traumatic hematomas of the cerebellum require operation.. AB - Prompt surgical intervention is thought to be necessary in patients with traumatic intracerebellar hematoma. The case reported here ran a benign course without operation. Pertinent serial computed tomographic scans are presented. It is concluded that not all traumatic hematomas of the cerebellum require operation.. UR - http://www.scopus.com/inward/record.url?scp=0019435506&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0019435506&partnerID=8YFLogxK. M3 - Article. C2 - 7207764. AN - ...
The subjects have to realize movements towards a target, at a digitizing tablet, holding a digitizing pencil. Visual feedback is projected on a screen surface in front of the subject, which hides the sight of actual movements from the latter. In the experimental condition of rotation, the experimenter introduces a rotation of 45 grades between the movement realized by the subject and the visual feedback that is provided on the screen. Then, the subject is provided with a strategy in order to overcome this perturbation: that is, to make the movement aiming 45 grades to the opposite direction from the introduced rotation. This explicit strategy leads to immediate correction of the error, but as the time passes subjects tend to commit more and more errors due to implicit motor adaptation. This happens because the motor control system tends to correct the perceived perturbation between the anticipated and the actual location of the hand in an automatic and unconscious way. The conflict between the ...
Human interest in the cerebellum has persisted since even the early 1500s, where Galen, Vesalius and Varolio gave the first few attempts to fully describe the macroscopic anatomy of the cerebellum. However, it was not until the late 1700s that advances were made to gain experimental evidence for the function of the cerebellum. Luigi Rolando identified a specifically motor impact after cerebellar lesions developed, as opposed to an intellectual or sensory effect. This led to the conclusion that the cerebellum incited and managed movement. Pierre Flourens and Luigi Luciani were able to use this albeit crude experimentation to further define that the cerebellum coordinated movement instead of creating it, and also to differentiate between the short-term and long-term effects of cerebellar lesions, respectively. [53] Ernesto Lugaro first defined plasticity as we know it in neuroscience, and also discovered the specific cells in the cerebellum that are named after him. He also furthered research ...
Human interest in the cerebellum has persisted since even the early 1500s, where Galen, Vesalius and Varolio gave the first few attempts to fully describe the macroscopic anatomy of the cerebellum. However, it was not until the late 1700s that advances were made to gain experimental evidence for the function of the cerebellum. Luigi Rolando identified a specifically motor impact after cerebellar lesions developed, as opposed to an intellectual or sensory effect. This led to the conclusion that the cerebellum incited and managed movement. Pierre Flourens and Luigi Luciani were able to use this albeit crude experimentation to further define that the cerebellum coordinated movement instead of creating it, and also to differentiate between the short-term and long-term effects of cerebellar lesions, respectively. [53] Ernesto Lugaro first defined plasticity as we know it in neuroscience, and also discovered the specific cells in the cerebellum that are named after him. He also furthered research ...
Looking for inferior cerebellar peduncle? Find out information about inferior cerebellar peduncle. A large bundle of nerve fibers running from the medulla oblongata to the cerebellum. Also known as restiform body Explanation of inferior cerebellar peduncle
Joubert Syndrome and related disorders (JSRD) are a group of autosomal recessive conditions characterized by a distinctive hindbrain malformation (the m...
The Joubert Syndrome & Related Disorders Foundation is an international network of parents who share knowledge, experience, & emotional support.
The researchers Jacques L. Michaud (CHU Ste-Justine), Jacek Mejewski (Université McGill) and Guy A. Rouleau (CHU Ste-Justine) have discovered mutations in TMEM231 causing Joubert syndrome, a rare desease in French Canadian population. ...
History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.. ...
The Science paper gave two bits of useful information on this subject. First, they actually measured the release of cytokines by their treatment and second they have demonstrated that giving high doses of steroids does not detract from the killing ability of the bispecific antibody. In fact patients were given methylprednisolone and low molecular weight heparin during the first treatment days as prophylaxis against cytokine release problems. The side effects of the treatment were mostly well managed. One patient with a history of near fatal sepsis died after developing an infection on this treatment. Another patient with hypogammaglobulinemia had treatment discontinued because of the development of pneumonia. One patient with a history of renal insufficiency had the drug stopped because of metabolic acidosis accompanied by a seizure. Five patients had the drug stopped because of CNS-related events; two with confusion, two with cerebellar symptoms and one with the seizure already alluded to. Al ...
The GluD2 protein, encoded by GRID2, is a member of the ionotropic glutamate receptor family that mediates excitatory synaptic transmission [17]. Studies on mice have revealed that Grid2 is expressed primarily in the Purkinje cells and it is essential for the formation and organization of synapses [23, 24]. Furthermore, mice with homozygous disruption of Grid2 show ataxia and mild cerebellar hypoplasia [25]. In humans, a few studies have recently reported on GRID2 gene variants in cerebellar syndrome with variable clinical expression. Characteristic features include slowly progressive SCA, ocular symptoms including upgaze and nystagmus, hypotonia, developmental delay with cognitive decline, and reduced volume of cerebellar vermis. The symptoms have been associated with both biallelic or monoallelic mutations indicating alternate patterns of inheritance [3-7].. Our combined data show that a novel and homozygous missense variant in the GRID2 gene is associated with the clinical features in our ...
Claus, D; Schöcklmann, HO; Dietrich, HJ (1986). "Long latency muscle responses in cerebellar diseases". European Archives of ... Claus, Detlef; Schocklmann, Dietrich (1986). "Long Latency Muscle Responses in Cerebellar Diseases". European Archives of ... Nerve conduction studies can only diagnose diseases on the muscular and nerve level. They cannot detect disease in the spinal ... Aminoff, [edited by] William F. Brown, Charles F. Bolton, Michael J. (2002). Neuromuscular function and disease : basic, ...
Cerebellar development and disease. Curr Opin Neurobiol. 2008 Feb;18(1):12-9. Epub 2008 May 29. Doyon J. Motor sequence ... Parkinson's disease, which affects the basal ganglia, has been shown to cause an impairment in the ability to consolidate new ... This points to the importance of the basal ganglia, the primary target of Parkinson's disease, in creating the new sensory/ ... Cerebellar involvement in anticipating the consequences of self-produced actions during bimanual movements. J Neurophysiol. ...
"Cerebellar development and disease". Curr Opin Neurobiol. 18 (1): 12-9. doi:10.1016/j.conb.2008.05.010. PMC 2474776. PMID ... B. Coronal images showing varying degrees of cerebellar hemispheric (one of two halves of a part of the brain) hypoplasia. ... Pontocerebellar hypoplasia is classified as follows: Pontine and cerebellar hypoplasia is also observed in certain phenotypes ... Mental retardation and microcephaly with pontine and cerebellar hypoplasia Millen KJ, Gleeson JG (February 2008). " ...
In cerebellar diseases, the movements are irregular and inaccurate; in case of the pyramidal tract lesion the motion may be ... With cerebellar disease, the forearm may sway in several cycles. The patient may even strike themself if not guarded. Various ... is characteristic of cerebellar diseases. Many clinical tests may be employed to test for such disturbances. Alternating ...
Lechtenberg, R.; Gilman, S. (1978). "Speech Disorders in Cerebellar Disease" (PDF). Ann. Neurol. 3 (4): 285-290. doi:10.1002/ ... Kent, RD; Netsell, R; Abbs, JH (September 1979). "Acoustic characteristics of dysarthria associated with cerebellar disease". J ... Tay-Sachs disease, and late-onset Tay-Sachs disease (LOTS) Dysarthrias are classified in multiple ways based on the ... Huntington's disease, Niemann-Pick disease, and Friedreich's ataxia.[citation needed] Toxic and metabolic conditions include: ...
"Entrez Gene: OPHN1 oligophrenin 1". Zanni G, Bertini ES (May 2011). "X-linked disorders with cerebellar dysgenesis". Orphanet ... Journal of Rare Diseases. 6: 24. doi:10.1186/1750-1172-6-24. PMC 3115841. PMID 21569638. "OPHN1". Genetics Home Reference. 2016 ... Zanni, Ginevra (February 2013). "X-linked intellectual disability-cerebellar hypoplasia syndrome". Orphanet. Bedeschi MF, ... cerebellar hypoplasia, seizures and ataxia". European Journal of Human Genetics. 7 (5): 541-8. doi:10.1038/sj.ejhg.5200320. ...
Holmes G (1908). "An Attempt to Classify Cerebellar Disease, with a Note on Marie's Hereditary Cerebellar Ataxia". Brain. 30 (4 ... "Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's disease". The American Journal ... An estimated 77% of cases of progressive cerebellar disease are reported to have one or more mental health disorders, and 19% ... Because many SCAs, including SCA1, are polyglutamine diseases and operate by similar mechanisms to Huntington's disease many ...
Chapter 10, "Cerebellar Disease." Elsevier. Nedzelski JM (October 1983). "Cerebellopontine angle tumors: bilateral flocculus ... a tumor of the meninges or membranes that surround the nerves passing through the CPA Cerebellar astrocytoma, a malignant tumor ... Hypertrophic pachymeningitis secondary to IgG4-related disease: case report and review of the literature]". Revista de ...
"Delayed Cerebellar Disease and Death after Accidental Exposure to Dimethylmercury". New England Journal of Medicine. 338 (23): ... Fecal matter in particular as it is known to carry many diseases. Many caregivers use gloves while touching the child's ...
"Delayed Cerebellar Disease and Death after Accidental Exposure to Dimethylmercury". New England Journal of Medicine. 338 (23): ... "Toxicological Profile for Mercury". Agency for Toxic Substances and Disease Registry. March 1999. Retrieved 29 January 2021. " ... Diethylmercury Mercury poisoning Minamata disease Methylmercury "dimethyl mercury - Compound Summary". PubChem Compound. USA: ...
"Delayed Cerebellar Disease and Death after Accidental Exposure to Dimethylmercury". New England Journal of Medicine. 338 (23): ...
Cerebellar hypoplasia - Small cerebellum, which is the part of the brain that coordinates movement. Liver disease - Elevated ... October 2015). "Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment". Orphanet Journal of Rare Diseases ... A defective copy of the PMM2 gene is the most common cause of a disease called "congenital disorders of glycosylation" or "PMM2 ... More than 115 mutations in PMM2 gene have been found to cause this disease. There is no cure for PMM2 deficiency. Treatment ...
2007). "Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia". J. Hum. Genet. 52 (8): 643-9. doi ... 2006). "16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study". J. Neurol. Sci. 247 (2): 180-6. doi: ... 2005). "Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families". Neurogenetics. 5 (4): ... "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the ...
His wartime observations on gunshot wounds re-awakened his interest in cerebellar disease which led to his classical analysis ... Holmes' observations on gunshot wounds re-awakened his interest in cerebellar disease; this culminated in his classical ... In 1906 he was appointed Physician to the National Hospital for Nervous Diseases, Queen Square, London. At the outbreak of the ... Holmes therefore returned to London and became a resident medical officer at the National Hospital for Nervous Diseases in ...
However, hypotonia caused by cerebellar dysfunction or motor neuron diseases can be progressive and life-threatening. Along ... Central core disease CHARGE syndrome Cohen syndrome Costello syndrome Dejerine-Sottas disease (HMSN Type III) Down syndrome a.k ... Multiple carboxylase deficiency Krabbe disease Leigh's disease Lesch-Nyhan syndrome Marfan's syndrome Menkes syndrome ... The outcome in any particular case of hypotonia depends largely on the nature of the underlying disease. In some cases, muscle ...
Mutations of this gene may lead to a variety of symptoms and diseases, which include type I lissencephaly, cerebellar ... The most prominent of these diseases are type I lissencephaly, VLDR-associated cerebellar hypoplasia, and atherosclerosis. In ... In addition, being that apoE, a major ligand of VLDLR, is a leading genetic risk factor for Alzheimer's disease, VLDLR may play ... VLDLR has also been shown to reduce the chances of premature heart disease and stroke because VLDLR clears out lipoprotein A ( ...
"The MAZ protein is an autoantigen of Hodgkin's disease and paraneoplastic cerebellar dysfunction". Ann. Neurol. 53 (1): 123-127 ...
CT may show ventricular enlargement due to cerebellar atrophy and white matter disease. Brain biopsy may be necessary to ... the disease can be managed with anticonvulsants, physiotherapy, etc.[citation needed] PRP is very rare and similar to SSPE but ... Progression of the disease can be divided into two stages: 1st stage: Behavioural Changes insidious onset subtle changes in ... behaviour and declining school work 2nd stage: Neurological Changes seizures - sometimes myoclonic cerebellar ataxia spastic ...
Cerebellar dentate nucleus in Alzheimer's disease with myoclonus. [Article]. Dementia and Geriatric Cognitive Disorders, 10(2 ... Canavan's disease: Canavan's disease is a white matter disease due to aspartoacylase deficiency. The dentate nucleus is not ... the deep cerebellar nuclei form a functional unit that provides feedback control of the cerebellar cortex by cerebellar output ... The deep cerebellar nuclei receive the final output from the cerebellar cortex via Purkinje cells in the form of inhibition. ...
ET cases that progress to Parkinson's disease are less likely to have had cerebellar problems. Recent neuroimaging studies have ... Louis ED (2014). "'Essential tremor' or 'the essential tremors': is this one disease or a family of diseases?". ... cerebrovascular disease, abnormal bleeding, hemorrhage and/or blood clotting disorders, advanced kidney disease or on dialysis ... Tremor and disease activity/intensity can worsen in response to fatigue, strong emotions, low blood sugar, cold and heat, ...
... s suffer from an inherited disease, cerebellar ataxia, forcing people to euthanize many puppies. This has been ... Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease. It is hoped that a test will be developed to ... "A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein ...
"Intact ability to learn internal models of arm dynamics in Huntington's disease but not cerebellar degeneration". J. ... May 2000). "Cerebellar ataxia: torque deficiency or torque mismatch between joints?". J Neurophysiol. 83 (5): 3019-30. doi: ... Jul 1996). "Cerebellar ataxia: abnormal control of interaction torques across multiple joints". J Neurophysiol. 76 (1): 492-509 ... Errors in reaching are commonly found in patients with cerebellar degeneration. This suggests their motor commands do not ...
Patients with defective PTEN can develop cerebellar mass lesions called dysplastic gangliocytomas or Lhermitte-Duclos disease. ...
Mutations in the SETX gene are the cause of the disease. AOA2 shows cerebellar atrophy, loss of Purkinje cells, and ... Although there is no sign of mental retardation or severe dementia, even after long disease duration, research on families with ... It is characterized by cerebellar atrophy and peripheral neuropathy. Sufferers of Type 2 have high amounts of another protein ... In addition, MRI studies have shown cerebellar atrophy, mild brainstem atrophy, and, in advanced cases, cortical atrophy The ...
Spinal muscular atrophy, Jokela type (SMAJ) is an autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is ... Mutations in CHCHD10 has also been found to be associated with cerebellar ataxia, frontotemporal dementia (FTD), and other ... mitochondrial diseases. CHCHD10 has been known to interact with C1QBP, CLPX, FAF1, RNASEH1, ZNF444, KLF13, and other proteins ...
"Diffusion tensor imaging of the cortico-ponto-cerebellar pathway in patients with adult-onset ataxic neurodegenerative disease ... "Diffusion tensor tractography of the human brain cortico-ponto-cerebellar pathways: a quantitative preliminary study". J Magn ... fibers of the corticopontocerebellar tracts that cross to the other side of the pons and run within the middle cerebellar ...
A Novel Approach to Understanding Cerebellar Function in Health and Disease". Neuroscientist. 22 (1): 83-97. doi:10.1177/ ... Grazina R, Massano J (2013). "Physical exercise and Parkinson's disease: influence on symptoms, disease course and prevention ... particularly Alzheimer's disease and Parkinson's disease. Regular exercise is also associated with a lower risk of developing ... "Protective Effects of Physical Exercise in Alzheimer's Disease and Parkinson's Disease: A Narrative Review". J Clin Neurol. 11 ...
On the other hand, multiple oscillation of the leg (pendular reflex) following the tap may be a sign of cerebellar diseases. ...
Differential diagnoses include primary neurologic diseases like cerebellar disorders, steroid-responsive tremor syndrome (" ... Endocrine/metabolic diseases like hepatic encephalopathy and infectious diseases like rabies and canine distemper must also be ... Head tremors are usually not associated with any other symptoms, although some dogs have other signs of disease in addition to ... Idiopathic head tremors are ordinarily considered a benign disease characterized by uncontrollable head tremors of spontaneous ...
... sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar ... Cerebellar circuitry has capacities to compensate and restore function thanks to cerebellar reserve, gathering multiple forms ... Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick type C disease, ... "Intensive coordinative training improves motor performance in degenerative cerebellar disease". Neurology. 73 (22): 1823-30. ...
L. Michaels (1987). Normal Anatomy, Histology; Inflammatory Diseases. Springer London. ISBN 9781447133322. .. ... For the structure in the cerebellum, see cerebellar tonsil.. Tonsil. sagittal view of tonsils and throat anatomy. ...
Baizabal-Carvallo, JF; Jankovic J. (2012-07-18). "Movement disorders in autoimmune diseases". Movement disorders : official ... Cerebellar ataxia. *راه رفتن پارکینسونی. *Marche a petit pas. *Propulsive gait. *Stomping gait ...
Baird, Amee; Samson, Séverine (2009). "Memory for Music in Alzheimer's Disease: Unforgettable?". Neuropsychology Review. 19 (1 ... Koeneke, Susan; Lutz, Kai; Wüstenberg, Torsten; Jäncke, Lutz (2004). "Long-term training affects cerebellar processing in ... Samson and Baird (2009) found that the ability of musicians with Alzheimer's Disease to play an instrument (implicit procedural ... rhythmic auditory stimuli have been shown to improve walking ability in Parkinson's disease and stroke patients.[38][39] ...
Zu Rhein, G.M.; Chou, S.M. (1965). "Particles Resembling Papova Viruses in Human Cerebral Demyelinating Disease". Science. 148 ... ultimately causing severe cerebellar atrophy.[14] This syndrome, called JCV granule cell layer neuronopathy (JCV GCN), is ... Zurhein, G; Chou, S. M. (1965). "Particles Resembling Papova Viruses in Human Cerebral Demyelinating Disease". Science. 148 ( ... the JC virus-induced demyelinating disease of the human brain". Clin. Microbiol. Rev. 25 (3): 471-506. doi:10.1128/CMR.05031-11 ...
The temporal pole of the cerebrum and the cerebellar hemisphere have been removed on the right side. Inferior aspect (viewed ... Correlation with cerebral collaterals in internal carotid artery occlusive disease". J Neurol. 253 (10): 1285-1291. doi:10.1007 ...
Alzheimer's disease,[71] Huntington's disease,[72] Rett syndrome,[73] and dementia,[74] as well as anorexia nervosa[75] and ... Knockout mice also exhibit cerebellar abnormalities and an increase in the number of sympathetic neurons.[20] ... "BDNF-based synaptic repair as a disease-modifying strategy for neurodegenerative diseases". Nature Reviews. Neuroscience. 14 (6 ... "Neuropsychiatric Disease and Treatment. 5: 433-49. doi:10.2147/ndt.s5700. PMC 2732010. PMID 19721723.. ...
Center for Disease Control and Prevention. April 16, 2015 [10 June 2015].. ... Meyer L, Kotch L, Riley E. Neonatal ethanol exposure: functional alterations associated with cerebellar growth retardation. ...
Such diseases are caused by an error in a single DNA gene. Because the disease is autosomal, the defective gene is found on an ... Similar abnormalities have been identified in the brainstem and cerebellar dentate nucleus.[2] ... More than 47 disease-causing mutations have been identified for the disorder, all of which lead to absence of functional ... Ketogenic diets have also been shown to have some neuroprotective effects in models of Parkinson's disease and hypoxia as well. ...
Alzheimer's disease,[67] Huntington's disease,[68] Rett syndrome,[69] and dementia,[70] as well as anorexia nervosa[71] and ... Knockout mice also exhibit cerebellar abnormalities and an increase in the number of sympathetic neurons.[17] ... "BDNF-based synaptic repair as a disease-modifying strategy for neurodegenerative diseases". Nature Reviews. Neuroscience. 14 (6 ... "Neuropsychiatric Disease and Treatment. 5: 433-49. doi:10.2147/ndt.s5700. PMC 2732010. PMID 19721723.. ...
Adults with cerebral palsy may have ischemic heart disease, cerebrovascular disease, cancer, and trauma more often.[44] Obesity ... Ataxic cerebral palsy is caused by damage to cerebellar structures.[77] Because of the damage to the cerebellum, which is ... Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, ... The spastic diplegia form of CP came to be known as Little's disease.[6] At around this time, a German surgeon was also working ...
"Archives of Disease in Childhood. 94 (1): 42-46. doi:10.1136/adc.2007.134114. ISSN 0003-9888. PMC 2597689. PMID 18782846.. ... Injuries to the brain and spinal cord, including cortex, subcortex, cerebellar, and even the neural pathway regions.[2] ... Other disorders with symptoms resembling stuttering include autism, cluttering, Parkinson's disease, essential tremor, ... Neurogenic stuttering typically appears following some sort of injury or disease to the central nervous system. ...
Cerebellar granule cell[edit]. Main article: Cerebellar granule cell. The granule cells, produced by the rhombic lip, are found ... Role in disease[edit]. Altered morphology of dentate granule cells[edit]. TrkB is responsible for the maintenance of normal ... of new cells early in the disease and decreased production late in the disease.[24] Aberrant integration of adult-generated ... "Neurofibrillary tangles in the dentate granule cells of patients with Alzheimer's disease, Lewy body disease and progressive ...
The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ... paraneoplastic cerebellar degeneration, encephalomyelitis, limbic encephalitis, brainstem encephalitis, opsoclonus myoclonus ... The root cause is extremely difficult to identify for paraneoplastic syndrome, as there are so many ways the disease can ... Research suggests that patients who are treated with ICIs are more susceptible to CNS disease (since the mechanism of ICIs ...
... , also called cerebellar cortical abiotrophy, is a genetic neurological disease in animals best known to ... a b Cerebellar Abiotrophy *^ a b Brault L. S. "The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse ... 1985). "Cerebellar Disease in Arabian Horses". Proceedings of the 21st annual convention of the American Association of Equine ... Cerebellar abiotrophy in dogs[edit]. *General information on genetics, breeding strategies, disease control and diversity. ...
"Applications of Genome Study - Simple Hereditary Diseases". Horse Genome Project. 2007.. *^ VetGen. "SCID". List of Services. ... "Cerebellar Abiotrophy". Veterinary Genetics Laboratory. University of California - Davis. Archived from the original on June 20 ... Genetic diseases that can occur in purebred Arabians, or in partbreds with Arabian ancestry in both parents, are the following: ... Cerebellar abiotrophy (CA or CCA). Recessive disorder, homozygous horses are affected, carriers show no signs. An affected foal ...
... in parietal and cerebellar cortices of autistic brains.[15] Cerebellar purjinke cells also reported a 40% downregulation, ... Parkinson disease[edit]. The bilateral delivery of glutamic acid decarboxylase (GAD) by an adeno-associated viral vector into ... "Orphanet Journal of Rare Diseases. 13 (1): 55. doi:10.1186/s13023-018-0787-5. PMC 5892043. PMID 29636076.. ... "Orphanet Journal of Rare Diseases. 6 (3): 3. doi:10.1186/1750-1172-6-3. PMC 3042903. PMID 21294897.. ...
In Lhermitte-Duclos disease, the cerebellar cortex loses its normal architecture, and forms a hamartoma in the cerebellar ... Dysplastic cerebellar gangliocytoma histology. Lhermitte-Duclos disease (LDD) (English: /ˌlɛərˈmiːtˌduːˈkloʊ/), also called ... MICROSCOPY(lhermitte-duclos disease) 1,Enlarged circumscribed cerebellar folia 2,internal granular layer is focally indistinct ... Robinson S, Cohen AR (2006). "Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature ...
The rarity of the disease complicates efforts to establish guidelines.[30] GABAA agonists,[2] usually diazepam but sometimes ... There is cerebellar and brainstem involvement. In some cases, the limbic system is affected, as well. Most patients have upper ... These patients tend not to have GAD antibodies.[2] Passive transfer of the disease by plasma injection has been shown in ... The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central nervous system autoimmune disease, but is ...
The term is sometimes also applied to physiological states outside the context of disease, as for example when referring to " ... Some symptoms occur in a wide range of disease processes, whereas other symptoms are fairly specific for a narrow range of ... Constitutional or general symptoms are those related to the systemic effects of a disease (e.g., fever, malaise, anorexia, and ... Non-specific symptoms are self-reported symptoms that do not indicate a specific disease process or involve an isolated body ...
Ménière's diseaseEdit. Ménière's disease is an inner ear disorder of unknown origin, but is thought to be caused by an increase ... tumors present in the cerebellopontine angle such as a vestibular schwannoma or cerebellar tumors,[9][11] epilepsy,[21] ... The most common diseases that result in vertigo are benign paroxysmal positional vertigo (BPPV), Ménière's disease, and ... Definitive treatment depends on the underlying cause of vertigo.[9] Ménière's disease people have a variety of treatment ...
Fan, H (2001). "Elimination of Bax expression in mice increases cerebellar Purkinje cell numbers but not the number of granule ... and Human Diseases. Humana Press. Apoptosis and Cell Death Labs International Cell Death Society The Bcl-2 Family Database. ... doi:10.1016/0896-6273(94)90266-6. Zanjani, HS (1996). "Increased cerebellar Purkinje cell numbers in mice overexpressing a ... and cardiovascular diseases : NMCD. 26: 1-8. doi:10.1016/j.numecd.2015.11.008. PMID 26719220. Chapter 10: All the Players on ...
... s may result from diseases acquired during life, or from genetic conditions. Lifestyle diseases including ... 2005). Robbins and Cotran Pathologic Basis of Disease (7th ed.). China: Elsevier. ISBN 0-7216-0187-1.. ... This can be because of acquired disease or hereditary factors. The repeated trauma of blood flow against the vessel wall ... Genetic conditions associated with connective tissue disease may also be associated with the development of aneurysms.[5] This ...
It accounts for 20% of all cases of cerebrovascular disease in the United States, behind cerebral thrombosis (40%) and cerebral ... "Heart disease and stroke statistics--2013 update: a report from the American Heart Association". Circulation. 127 (1): e6-e245 ...
This includes cerebellar ataxia, peripheral neuropathy, schizophrenia, and autism.[48]. CauseEdit. Coeliac disease is caused by ... Coeliac disease, also spelled celiac disease, is a long-term autoimmune disorder that primarily affects the small intestine.[10 ... "Symptoms & Causes of Celiac Disease , NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. June 2016. ... Losowsky MS (2008). "A history of coeliac disease". Digestive Diseases. 26 (2): 112-20. doi:10.1159/000116768. PMID 18431060.. ...
Disease[edit]. Main article: Vascular disease. Blood vessels play a huge role in virtually every medical condition. Cancer, for ... Atherosclerosis, the formation of lipid lumps (atheromas) in the blood vessel wall, is the most common cardiovascular disease, ... Vasculitis is inflammation of the vessel wall, due to autoimmune disease or infection. ...
"Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. ". Int ... cerebellar Purkinje cell layer formation. • establishment of protein localization. • auditory receptor cell stereocilium ...
Ménière's disease, labyrinthitis, strokes, and other infective and congenital diseases may also result in the perception of ... arising from either the anterior inferior cerebellar artery or the basilar artery.[8] ... The ear may be affected by disease, including infection and traumatic damage. Diseases of the ear may lead to hearing loss, ... Other causes include: ear infections, disease of the heart or blood vessels, Ménière's disease, brain tumors, emotional stress ...
遗传中枢神经系统脱髓鞘疾病(英语:Hereditary CNS demyelinating disease) *肾上腺脑白质营养不良 ... Cerebellar ataxia(英语:Cerebellar ataxia)/Dysmetria(英语:Dysmetria). *Sensory ataxia(英语:Sensory ataxia) ... 基底节病变(英语:Basal ganglia disease) *帕
The MRI done showed evidence of cerebellar atrophy. Diffuse cerbellar and cerebral volume loss... ... The medications given to him were for Parkinsons disease like syndopa,ropark. Can u tell me about cerebellar atrophy? Is this ... Basically, there are some features of Parkinsons disease, but there are additional features, such as cerebellar ataxia. Ataxia ... Alzheimers Disease: Current Concepts & Future Directions In this special Missouri Medicine report, doctors examine advances in ...
There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: Dyssynergia ... Disease Ontology Browser myoclonic cerebellar dyssynergia (DOID:12707) Alliance: disease page Synonyms: Dyssynergia ... cerebellaris myoclonica; progressive cerebellar tremor Alt IDs: OMIM:213400, ICD10CM:G11.1, MESH:D002527, UMLS_CUI:C0007761 ...
Cerebellar abiotrophy is a neurological disease found mostly in Arabian horses. Though there is no cure, there are ways to ... Equine disease: Cerebellar abiotrophy. Cerebellar abiotrophy is a neurological disease found mostly in Arabian horses. Though ... There are diseases horse owners vaccinate to prevent and there are also genetic diseases. Cerebellar abiotrophy is a ... Cerebellar abiotrophy is a common genetic disease that is serious and fatal. Increased awareness of the symptoms as well as ...
Familial Alzheimers disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis. ... Familial Alzheimers disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis. ... Familial Alzheimers disease (FAD) is characterized by autosomal dominant heritability and early disease onset. Mutations in ... In a murine model of PS1-FAD, animals exhibited mild ataxia and reduced PC simple spike activity prior to cerebellar β-amyloid ...
Double dissociation of single-interval and rhythmic temporal prediction in cerebellar degeneration and Parkinsons disease. ... 1987) The unified Parkinsons disease rating scale. Recent Developments in Parkinsons Disease, eds Fahn S, Marsden CD, Calne ... To address these issues, we tested individuals with cerebellar degeneration or Parkinsons disease, with the latter serving as ... Double dissociation of single-interval and rhythmic temporal prediction in cerebellar degeneration and Parkinsons disease ...
Cerebellar locomotor and fastigial FC was higher in cerebellar and posterior cortical areas in PD-FOG than in HS. FC of the ... Abnormal Cerebellar Connectivity Patterns in Patients with Parkinsons Disease and Freezing of Gait. ... Resting-state functional magnetic resonance imaging Functional connectivity Parkinsons disease Freezing of gait Cerebellar ... FC of the cerebellar locomotor region and white matter (WM) properties of cerebellar peduncles correlate with FOG severity, ...
Directory. Start here to access encyclopedic information about the worm genome and its genes, proteins, and other encoded features… Find out more. ...
... in order to follow the changes of non-motor features of cerebellar degeneration throughout disease progression. This template ... in order to follow the changes of non-motor features of cerebellar degeneration throughout disease progression. This template ... Our analysis shows a progression of cerebellar GM volume changes throughout a continuous spectrum from early to late clinical ... Our analysis shows a progression of cerebellar GM volume changes throughout a continuous spectrum from early to late clinical ...
Originally used for inherited cerebellar ataxias, the Scale for Assessment and Rating of cerebellar Ataxia (SARA) and Composite ... Ataxia is common in various forms of human prion diseases but there is a dearth of validated assessment tools and data on the ... SARA and CCFS assessments were completed for patients with sporadic CJD (sCJD, n=119), and inherited prion disease (IPD, n=46 ... Patients were concurrently scored on the Medical Research Council Prion Disease Rating Scale (MRC PDRS), a functionally- ...
Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. Dolichoectasia of ... Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease. ... Microsurgical anatomy of the superior cerebellar artery. Neurosurgery. 1980;6:10-28.CrossRefPubMedGoogle Scholar ... Pompe disease is associated with BA dilation, elongation and elevated bifurcation height of the BA which might result in ...
Suboccipital craniotomy and cervical laminectomy were performed in a patient with Camurati-Englemanns disease to relieve ... In spite of surgical decompression, the patient expired on the fourth postoperative day from cerebellar herniation. ...
click the speakers name to view other papers and abstracts submitted by this speaker) Richard A. LeCouteur, BVSc, PhD, Diplomate ACVIM (Neurology), DECVN ...
We identified several distinct rsFC patterns of the two cognitive-related cerebellar subregions: default-mode network (DMN), ... We identified several distinct rsFC patterns of the two cognitive-related cerebellar subregions: default-mode network (DMN), ... Collectively, we demonstrated the distinct rsFCs patterns of cerebellar sub-regions with various functional networks, which ... Collectively, we demonstrated the distinct rsFCs patterns of cerebellar sub-regions with various functional networks, which ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists ... Diseases expand submenu for Diseases * Browse A-Z * Find Diseases By Category expand submenu for Find Diseases By Category * ... Find Diseases By Category expand submenu for Find Diseases By Category *Autoimmune / Autoinflammatory diseases ... For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed ...
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Yuishin Izumi, Ryosuke Miyamoto, Hiroyuki Morino, Akio ... Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Yuishin Izumi, Ryosuke Miyamoto, Hiroyuki Morino, Akio ... Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease - March 26, 2013 ... Mutations in SYNE1 are responsible for a group of recessively inherited cerebellar ataxias in French-Canadian families, known ...
We present an unusual case of cerebellar ataxia in a 2 year old girl several days after treatment with piperazine citrate for ...
I am suffering from multiple sclerosis but my grandfather had a disease called cerebellar degeneration. This topic is answered ... I am suffering from multiple sclerosis but my grandfather had a disease called cerebellar degeneration. After I did some ... Balos Disease And Multiple Sclerosis: Differences And Similarities End MS Set To Raise Millions For Finding Multiple Sclerosis ... Balos Disease And Multiple Sclerosis: Differences And Similarities * End MS Set To Raise Millions For Finding Multiple ...
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Autosomal dominant cerebellar ... Diseases expand submenu for Diseases * Browse A-Z * Find Diseases By Category expand submenu for Find Diseases By Category * ... Find Diseases By Category expand submenu for Find Diseases By Category *Autoimmune / Autoinflammatory diseases ... contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter ...
The present invention is directed to an apparatus and methods for modulating brainstem and cerebellar circuits controlling ... Brainstem and cerebellar modulation of cardiovascular response and disease CA 2515092 CA2515092A1 (en) 2003-02-03. 2004-02-03. ... Brainstem and cerebellar modulation of cardiovascular response and disease PCT/US2004/003158 WO2004069328A3 (en) 2003-02-03. ... Brainstem and cerebellar modulation of cardiovascular response and disease EP20040707834 EP1599250A2 (en) 2003-02-03. 2004-02- ...
Cerebellar Disease without Dementia and Infection with the Human Immunodeficiency Virus (HIV) M. YEBRA, M.D.; A. GARCÍA-MERINO ... YEBRA M, GARCÍA-MERINO A, ALBARRÁN F, VARELA J, ECHEVARRÍA J. Cerebellar Disease without Dementia and Infection with the Human ... The following patient had an exceptionally prolonged cerebellar syndrome in absence of mental involvement. ...
Immune mediated phenomenon with no structural damage is another possible mechanism leading to cerebellar ataxia. Cerebellar ... A 28 year old female from North India presented with a short febrile illness followed by an acute onset cerebellar ataxia, ... The case report highlights the importance of identifying a reversible cause of cerebellar ataixa due to a tropical infection, ...
Effect of levodopa on cortico-striatal and cortico-cerebellar circuits in Parkinsons disease. Thesis or Dissertation ... Parkinsons disease (PD) is the second most common neurodegenerative disease, mainly manifested by tremor, rigidity, ... The first portion (chapter 2) provides a literature review on cortico-striatal and cortico-cerebellar circuit disruption in PD ... Using neuroimaging techniques, changes in cerebral and cerebellar activity have been observed in patients with PD compared with ...
Cerebellar abiotrophy in Beagle is a genetic disease that causes programmed cell-death of Purkinje-cells in the cerebellum. ... The Disease Cerebellar abiotrophy in Beagle is a genetic disease that causes programmed cell-death of Purkinje-cells in the ... Infectious Diseases. Organs / Parameters. Downloads & Order. Order Online. About Us. Crufts & Shows. Contact Us. Kennel Club ... Lafora Disease in Basset Hound, Beagle, Chihuahua, French Bulldog, Welsh Corgi and Mini Wirehaired Dachshund new Kennel Club ...
It is a severe neurodegenerative disease with monogenic autosomal recessive inheritance. The disease is characterised by ... p> The disease can also be caused by another mutation SDCA2 . We also offer a ... is an inherited disease affecting the Belgian Shepherd breed. ... The Disease Spongy Degeneration with Cerebellar Ataxia, (SDCA2 ... Stargardt disease ( STGD ). and Copper storage disease - Copper toxicosis (CT) in Labrador Retriever. new test: Inflammatory ...
Infantile Cerebellar-Retinal Degeneration Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, ... Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases See all MalaCards ... Brain MRI shows progressive cerebral and cerebellar degeneration. Disease Ontology : 12 A neurodegenerative disease that is ... ClinVar genetic disease variations for Infantile Cerebellar-Retinal Degeneration:. 6 (show all 16) #. Gene. Variation. Type. ...
... cerebellar disease in dogs including diagnosis and symptoms, pathogenesis, prevention, treatment, prognosis and more. All ... Storage diseases Storage disease (most are autosomal recessive diseases).. *Spongiform encephalopathies (probable autosomal ... Cerebellar disease results in an inability to regulate the rate, range and force of a movement, ie dysmetria. ... Vite C H et al (1996) Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and ...
... had substantial positive effects on hepatic disease in feline NPC disease but had no effect on neurological disease. In ... to cats with NPC disease ameliorated hepatic disease, but doses sufficient to reduce neurological disease resulted in pulmonary ... Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease ... Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease ...
Your Name) has sent you a message from Disease Models & Mechanisms Message Body (Your Name) thought you would like to see the ... Cerebellar size is smaller in Math1-Bmi1 mice compared with wild type. (A,B) Representative examples of the small cerebellar ... Primary cerebellar cell and DAOY cell line culture. Mixed cerebellar cultures were established from P7-P8 pups as previously ... Medulloblastoma is a malignant paediatric cerebellar tumour that can arise from cerebellar granule cell progenitors (GCPs), as ...
Machado-Joseph disease. Sudarsky L, Coutinho P. Machado-Joseph disease. Clin Neurosci. 1995;3(1):17-22. Review. ... Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Burk K, Abele M, ... Progressive cerebellar signs of ataxia with dystonia, dysphagia and motor signs from infancy has been seen. Other patients with ... Ophthalmological Features of Machado-Joseph Disease. Rana AQ, Qureshi DT, Morshed M, Kachhvi ZM, Rana MA, Qureshi ARM. ...
We describe here the identification of causative mutations for three different canine diseases: neonatal cerebellar ataxia, ... Molecular genetic studies in canine inherited diseases including neonatal cerebellar ataxia, degenerative myelopathy and ... In addition, we discuss the potential importance of these canine diseases if used as human disease models. ... ACCESS RESTRICTED TO THE UNIVERSITY OF MISSOURI AT AUTHORS REQUEST.] The inherited diseases of the domestic dog mimic a wide ...
  • Cerebellar abiotrophy affects the neurons in the cerebellum that controls coordination and balance. (msu.edu)
  • Due to the fundamental role of the cerebellum in posture and gait control, we examined cerebellar structural and functional connectivity (FC) in patients with PD and FOG. (springer.com)
  • The role of the cerebellum in cognitive function has been broadly investigated in the last decades from an anatomical, clinical, and functional point of view and new evidence points toward a significant contribution of the posterior lobes of the cerebellum in cognition in Alzheimer's disease (AD). (frontiersin.org)
  • These findings support the role of the cerebellum in higher-level functions, and whilst confirming previous data on the involvement of Crus I in AD dementia, provide new evidence of an involvement of the vermis in the early stages of the disease. (frontiersin.org)
  • Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. (nih.gov)
  • Cerebellar abiotrophy in Beagle is a genetic disease that causes programmed cell-death of Purkinje-cells in the cerebellum. (laboklin.co.uk)
  • Diseases of the cerebellum lead to loss of the 'fine-tuning' of movements of the body and head. (vetstream.com)
  • Senile plaques (SP) in the cerebellum of 23 cases of Alzheimer's disease (AD), three with widespread amyloid angiopathy, were studied with a modified Bielschowsky stain and immunocytochemical methods using antibodies to a beta-amyloid synthetic peptide (βASP), phosphorylated neurofilament proteins, ubiquitin, tau protein, and glial fibrillary acidic protein (GFAP). (elsevier.com)
  • The absence of phosphorylated neurofilament and tau epitopes in neuritic elements in cerebellar SP is not surprising since paired helical filaments have not been seen in the cerebellum. (elsevier.com)
  • Cerebellar hypoplasia ("CH") is a neurological condition in which the cerebellum is smaller than usual or not completely developed. (wikipedia.org)
  • Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. (wikipedia.org)
  • Patients suffering from cerebellar degeneration experience a progressive loss of nerve cells (Purkinje cells) throughout the cerebellum. (wikipedia.org)
  • More specifically, the neurological diseases that can cause cerebellar degeneration include: Spinocerebellar ataxia (SCA), which refers to a group of conditions caused by mutations in the genes of a human, and are characterised by degenerative changes to many parts of the central nervous system, inclusive of the cerebellum, brain stem, and spinal cord. (wikipedia.org)
  • Diseases that affect the structure or function of the cerebellum. (selfdecode.com)
  • Residual function of the cerebellum appears to be exploited suggesting either a recovery from degeneration or intact processes of cerebellar plasticity in the remaining healthy tissue. (jneurosci.org)
  • In patients with cerebellar degeneration, VBM may show that motor improvement can rely either on the cerebrum or cerebellum. (jneurosci.org)
  • Cerebellar degeneration is a process in which neurons (nerve cells) in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. (nih.gov)
  • Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. (nih.gov)
  • This comprehensive reference text on cerebellar disorders in children includes chapters on cerebellar development, prenatal cerebellar imaging, imaging of the posterior fossa, with coverage of a broad range of malformations, genetic and metabolic disorders involving the cerebellum, prenatal cerebellar disruptions (as related to prematurity), vascular disorders, tumors and paraneoplastic syndromes, as well as acute ataxia and trauma to the posterior fossa. (mackeith.co.uk)
  • Rosai-Dorfman disease is exceedingly rare in the pediatric population and has never been observed in the cerebellum of a child. (thejns.org)
  • When a puppy or kitten is born with an underdeveloped cerebellum, the condition is known as congenital cerebellar hypoplasia. (vetinfo.com)
  • This condition can be confused with cerebellar abiotrophy, a different disorder in dogs in which the puppy has a normal cerebellum at birth but it gradually dies. (vetinfo.com)
  • Finally, postmortem analysis of the cerebellum of a paraneoplastic cerebellar ataxia patient showed that the number of Purkinje cells was significantly reduced by approximately two thirds compared with three controls. (nih.gov)
  • In the presence of cerebellar atrophy, the volumetric measurements excluded the cerebrospinal fluid space between the lobules of the cerebellum. (jhu.edu)
  • Anatomically, cerebellar ataxias show progressive atrophy of the cerebellum that is often accompanied by atrophy of the brainstem, cerebral cortex, and other regions. (jhu.edu)
  • To address these issues, we tested individuals with cerebellar degeneration or Parkinson's disease, with the latter serving as a model of basal ganglia dysfunction, on temporal prediction tasks in the subsecond range. (pnas.org)
  • Patients with cerebellar degeneration showed no benefit from single-interval cuing but preserved benefit from rhythm cuing, whereas patients with Parkinson's disease showed no benefit from rhythm cuing but preserved benefit from single-interval cuing. (pnas.org)
  • In the present work we used SUIT-VBM (spatially unbiased infratentorial template, voxel-based morphometry) to perform an analysis of the pattern of cerebellar gray matter (GM) atrophy in amnestic mild cognitive impairment (a-MCI) and AD dementia patients compared to healthy subjects (HS), in order to follow the changes of non-motor features of cerebellar degeneration throughout disease progression. (frontiersin.org)
  • I am suffering from multiple sclerosis but my grandfather had a disease called cerebellar degeneration. (steadyhealth.com)
  • After I did some reading, I learned that multiple sclerosis could lead to cerebellar degeneration too and I would like to know what are my chances of developing this disease too since it runs in the family? (steadyhealth.com)
  • As far as I know, cerebellar degeneration usually results from inherited genetic mutations. (steadyhealth.com)
  • I suppose you need to talk to your doctor about this risk of cerebellar degeneration. (steadyhealth.com)
  • Spongy Degeneration with Cerebellar Ataxia, (SDCA2) is an inherited disease affecting the Belgian Shepherd breed. (laboklin.co.uk)
  • 53 Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. (malacards.org)
  • Infantile Cerebellar-Retinal Degeneration, also known as icrd , is related to retinitis and retinal degeneration , and has symptoms including ataxia , athetosis and seizures . (malacards.org)
  • An important gene associated with Infantile Cerebellar-Retinal Degeneration is ACO2 (Aconitase 2), and among its related pathways/superpathways are Metabolism and Carbon metabolism . (malacards.org)
  • 57 Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (malacards.org)
  • Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al. (malacards.org)
  • Brain MRI shows progressive cerebral and cerebellar degeneration. (malacards.org)
  • 12 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (malacards.org)
  • Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed Coton de Tulear . (vetstream.com)
  • We describe here the identification of causative mutations for three different canine diseases: neonatal cerebellar ataxia, canine degenerative myelopathy and canine multiple system degeneration. (umsystem.edu)
  • paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. (wikipedia.org)
  • Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. (wikipedia.org)
  • Cerebellar degeneration can be attributed to a plethora of hereditary and non-hereditary conditions. (wikipedia.org)
  • More commonly, cerebellar degeneration can also be classified according to conditions that an individual may acquire during their lifetime, including infectious, metabolic, autoimmune, paraneoplastic, nutritional or toxic triggers. (wikipedia.org)
  • Approximately 50% of all patients suffer from dementia as a result of paraneoplastic cerebellar degeneration. (wikipedia.org)
  • The data suggest that degeneration of the cerebellar cortex in sCJD may occur in a topographic pattern consistent with the spread of prion pathology along anatomical pathways. (aston.ac.uk)
  • Indeed, the mice have a short life expectancy of 25 d with lesions not seen in the human disease (liver and spongiform cortical lesions), preventing cell-specific degeneration mechanisms studies. (jneurosci.org)
  • [3] Other terms used to describe the condition in dogs include cerebellar cortical atrophy and postnatal cerebellar cortical degeneration. (wikipedia.org)
  • There are other diseases that lead to cerebellar degeneration, but the loss of Purkinje cells is a clear way to diagnose cerebellar abiotrophy, and the combination of symptoms is sufficiently unique that cerebellar abiotrophy can easily be distinguished from other conditions, even in a living animal. (wikipedia.org)
  • It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms. (nih.gov)
  • Recent research indicates that physiotherapy can improve motor performance of patients with cerebellar degeneration. (jneurosci.org)
  • Nineteen human subjects with pure cerebellar degeneration and matched healthy controls were trained for 2 weeks on a balance task. (jneurosci.org)
  • However, at this point the neuronal underpinnings of the beneficial effect of coordinative training in cerebellar degeneration remain elusive. (jneurosci.org)
  • Patients with cerebellar degeneration disease showed behavioral impairments consistent with tandemly arranged internal models. (pnas.org)
  • The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. (nih.gov)
  • Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration. (nih.gov)
  • Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system, including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. (nih.gov)
  • Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons. (nih.gov)
  • The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. (nih.gov)
  • The new test is called the CD (CA) test, which stands for Cerebellar Degeneration and the letters (CA) appear in parenthesis to clarify the test for all of us who have used that term for many years. (oldenglishsheepdogclubofamerica.org)
  • Old English Sheepdog, Cerebellar Degeneration. (oldenglishsheepdogclubofamerica.org)
  • Paraneoplastic cerebellar degeneration (PCD) was the first paraneoplasia to be described and occurs in a wide range of different types of neoplasia such as lymphomas, carcinomas of the ovaries, uterus, breast, in addition to the most frequently culpable small cell carcinoma. (redorbit.com)
  • Is cerebellar degeneration terminal? (healthtap.com)
  • How are cerebellar degeneration, cerebellar ataxia and paraneoplastic cerebellar related? (healthtap.com)
  • What are ataxia, cerebellar or spinocerebellar degeneration? (healthtap.com)
  • What is alcohol cerebellar degeneration like? (healthtap.com)
  • Nutrition beneficial for cerebellar degeneration? (healthtap.com)
  • There is one uncommon form of cerebellar degeneration that is kept at bay by very large doses of vitamin e . (healthtap.com)
  • Cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). (nih.gov)
  • It is believed that the cerebellar hypoplasia is due to a defect in the neuronal proliferation and neuronal migration during development of the embryonic nervous system . (nih.gov)
  • Cerebellar hypoplasia may result after an atrophy (destruction) of the cerebral cortex on the opposite side. (nih.gov)
  • [3] [4] There are some documented cases in the literature in which cerebellar hypoplasia has been associated with autosomal recessive and X-linked patterns of inheritance. (nih.gov)
  • [5] [6] There are also several genetic syndromes in which cerebellar hypoplasia is a finding. (nih.gov)
  • An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (zfin.org)
  • Feline Distemper or Feline Parvo) virus has long been known to cause cerebellar hypoplasia in neonatal kittens through in utero or perinatal infection. (wikipedia.org)
  • cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. (mendelian.co)
  • Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. (mendelian.co)
  • Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations. (uniprot.org)
  • Cerebellar abiotrophy in horses was originally thought to be a form of cerebellar hypoplasia and was described as such in older research literature. (wikipedia.org)
  • Cerebellar hypoplasia is particularly common in cats and has similar symptoms. (wikipedia.org)
  • Almost all dogs and cats with congenital cerebellar hypoplasia can live happily as pets with a little special care to compensate for their disabilities. (vetinfo.com)
  • Signs of disease identical to cerebellar hypoplasia occur but the timing is different. (vetinfo.com)
  • Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. (medlineplus.gov)
  • In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). (medlineplus.gov)
  • Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (medlineplus.gov)
  • Cerebellar atrophy or hypoplasia has sometimes been reported to be associated. (wikipedia.org)
  • Originally used for inherited cerebellar ataxias, the Scale for Assessment and Rating of cerebellar Ataxia (SARA) and Composite Cerebellar Functional Severity Score (CCFS) have been incorporated into the National Prion Monitoring Cohort (NPMC) as semi-quantitative measures of posture, gait, kinetic dysfunction and speech in patients with sporadic and inherited Creutzfeldt-Jakob disease (CJD). (bmj.com)
  • Mutations in SYNE1 are responsible for a group of recessively inherited cerebellar ataxias in French-Canadian families, known as spinocerebellar ataxia, autosomal recessive 8 (SCAR8). (neurology.org)
  • Autosomal Dominant Cerebellar Ataxias, Spinocerebellar ataxias. (biomedcentral.com)
  • The definition of spinal cerebellar ataxias (SCAs) despite significant progress in their understanding is still imprecise. (biomedcentral.com)
  • They can be divided by the mode of inheritance to autosomal dominant, autosomal recessive, or sporadic conditions, Harding proposed a classification of autosomal dominant cerebellar ataxias (ADCA) into three categories, Type I, Type II and Type III. (biomedcentral.com)
  • The hereditary cerebellar ataxias include diverse neurodegenerative disorders. (clinicaltrials.gov)
  • Sporadic and hereditary cerebellar ataxias are associated with progressive loss of motor coordination severely affecting all aspects of daily life ( Klockgether and Paulson, 2011 ). (jneurosci.org)
  • This book will be an invaluable resource for all those caring for children affected by cerebellar disorders, including malformations, genetic and metabolic disorders, acquired cerebellar damage, vascular disorders and acute ataxias. (mackeith.co.uk)
  • Lisa was funded by Ataxia UK to undertake a three year study of neurophysiology for balance in persons with SCA (spino-cerebellar ataxias). (plymouth.ac.uk)
  • Cerebellar ataxias are characterized by poor control of gait, speech, coordination, and eye movements. (jhu.edu)
  • Fuhioka S and Wszolek Z. Autosomal dominant cerebellar ataxia type 1. (nih.gov)
  • This template has been validated to guarantee a significant improvement in voxel-to-voxel alignment of the individual fissures and the deep cerebellar nuclei compared to Montreal Neurological Institute (MNI) whole-brain template. (frontiersin.org)
  • Purkinje cells project inhibitory signals to the deep cerebellar nuclei(DCN) which have a critical role in cerebellar function and motor performance. (clinicaltrials.gov)
  • Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing. (ox.ac.uk)
  • The total cerebellar volume was defined to include the cerebellar cortex, arbor vitae corpus medullare, and deep cerebellar nuclei. (jhu.edu)
  • Here, we investigated PS1-E280A-associated cerebellar dysfunction and found that it occurs early in PS1-E208A carriers, while cerebellar signs are highly prevalent in patients with dementia. (jci.org)
  • We show that individuals with cerebellar dysfunction were impaired in forming temporal predictions based on single intervals, but not in rhythmic contexts. (pnas.org)
  • In contrast, individuals with basal ganglia dysfunction resulting from Parkinson's disease showed the reverse pattern. (pnas.org)
  • CCD is the phenomenon of unilateral cerebellar hypometabolism as a remote effect of supratentorial dysfunction of the brain in the contralateral hemisphere. (eurekaselect.com)
  • Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. (biomedcentral.com)
  • Chronic cannabis consumption has been associated with poor psychosocial functioning that could be associated to cerebellar dysfunction. (clinicaltrials.gov)
  • Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA. (selfdecode.com)
  • The pathogenesis of brain dysfunction in a canine model of juvenile Batten disease was studied with techniques designed to determine sequential changes in mitochondrial morphology and cytochrome oxidase (CO) activity, and in neurons and synapses using gamma-aminobutyric acid (GABA) as a neurotransmitter. (elsevier.com)
  • These results indicate that abnormal mitochondria are present in neurons in Batten disease, and suggest that suboptimal mitochondrial function may play a role in the pathogenic mechanisms of brain dysfunction in this disorder. (elsevier.com)
  • The dysfunction of cholinergic neurons is a typical hallmark in Alzheimer's disease (AD). (unipv.it)
  • A negative Romberg test suggests that ataxia is cerebellar in nature, i.e. depending on localised cerebellar dysfunction instead. (wikidoc.org)
  • We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. (elsevier.com)
  • Cerebellar abiotrophy is a neurological disease found mostly in Arabian horses. (msu.edu)
  • Cerebellar abiotrophy is a neurological genetic disease found mostly in the Arabian horse breed . (msu.edu)
  • There is no way to cure cerebellar abiotrophy and it is not contagious, but there are ways to prevent the spread of it through responsible breeding practices. (msu.edu)
  • Cerebellar abiotrophy is a recessive disease, meaning the symptoms are only present when the horse carries both the recessive genes. (msu.edu)
  • This happens when the horse only has one recessive gene for cerebellar abiotrophy. (msu.edu)
  • Cerebellar abiotrophy symptoms can begin as early as six weeks old, but may take up to 18 months. (msu.edu)
  • The spread of cerebellar abiotrophy carriers can be maintained through responsible breeding. (msu.edu)
  • If you are unsure if a horse is a cerebellar abiotrophy carrier, there is a test to determine if your horse is a carrier. (msu.edu)
  • The decision to test a horse is only necessary when deciding to breed a mare and the stallion is a cerebellar abiotrophy carrier. (msu.edu)
  • You will want to make sure the mare is not a carrier as well to prevent the chance of the foal being positive for cerebellar abiotrophy. (msu.edu)
  • Research has shown there is only a 25 percent for the offspring to have cerebellar abiotrophy. (msu.edu)
  • However, with the investing into breeding a mare and keeping a foal mare, it is not a smart economical decision or ethical decision to knowingly breed a cerebellar abiotrophy carrier. (msu.edu)
  • Cerebellar abiotrophy is a common genetic disease that is serious and fatal. (msu.edu)
  • It is very unlikely that the dog will develop Neonatal Cortical Cerebellar Abiotrophy (NCCD). (laboklin.co.uk)
  • A two-year-old Arabian horse with cerebellar abiotrophy, showing stiff awkward gait, and upper range of unnatural head bob. (wikipedia.org)
  • Cerebellar abiotrophy , also called cerebellar cortical abiotrophy , is a genetic neurological disease in animals best known to affect certain breeds of horses , dogs and cats . (wikipedia.org)
  • The cause of cerebellar abiotrophy is not known, but it is thought to be due to an intrinsic metabolic defect. (wikipedia.org)
  • Cerebellar abiotrophy cannot be prevented, other than by selective breeding to avoid the gene, and it cannot be cured. (wikipedia.org)
  • However, affected animals are quite accident-prone, and for this reason many animals that develop cerebellar abiotrophy, particularly horses, are euthanized for humane reasons. (wikipedia.org)
  • We encourage you to read ALL the articles listed to expand your knowledge of Cerebellar Abiotrophy and how it is inherited. (oldenglishsheepdogclubofamerica.org)
  • The inherited diseases of the domestic dog mimic a wide spectrum of common human disorders. (umsystem.edu)
  • Treatment of cerebellar disorders depends on the cause. (medlineplus.gov)
  • The root cause of incurring a cerebellar degenerative condition can be due to a range of different inherited or acquired (non-genetic and non-inherited) conditions, including neurological diseases, paraneoplastic disorders, nutritional deficiency, and chronic heavy alcohol use. (wikipedia.org)
  • Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). (mendelian.co)
  • Disorders in cerebellar ocular motor control. (lookfordiagnosis.com)
  • The first part sets out the theoretical underpinnings of cerebellar disorders. (mackeith.co.uk)
  • Some of the symptoms of acute cerebellar ataxia can be very similar to those of other brain disorders, such as migraine , stroke , lesions in the brain, head injury , and metabolic disorders. (medicalnewstoday.com)
  • A doctor may perform additional tests to rule out other causes, such as developmental delays, genetic disorders, or autoimmune diseases. (medicalnewstoday.com)
  • Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria , the organelles that generate energy for the cell. (wikipedia.org)
  • Defects in nuclear-encoded mitochondrial genes are associated with hundreds of clinical disease phenotypes including anemia , dementia , hypertension , lymphoma , retinopathy , seizures , and neurodevelopmental disorders . (wikipedia.org)
  • Jankovic J. Ask the Experts: Differentiating Parkinson's disease from other parkinsonian disorders. (bcm.edu)
  • Movement disorders in neurologic and systemic disease. (bcm.edu)
  • DCN neurons fire spontaneously in the absence of synaptic input from Purkinje neurons and modulation of the DCN response by Purkinje input is believed to be responsible for coordination of movement, while uncontrolled spontaneous firing of DCN neurons may underlay cerebellar ataxia. (clinicaltrials.gov)
  • Mitochondrial alterations were found in a select population of nonpyramidal neurons in neocortex and claustrum, and in cerebellar basket cells. (elsevier.com)
  • Proportions of affected neurons at any one time remained constant over the disease course, with morphologically-abnormal mitochondria first being recognized at age 6 months. (elsevier.com)
  • March, PA, Wurzelmann, S & Walkley, SU 1995, ' Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease ', American journal of medical genetics , vol. 57, no. 2, pp. 204-212. (elsevier.com)
  • Long-term potentiation (LTP) of mossy fiber EPSCs in the cerebellar nuclei is certainly controlled by synaptic inhibition from Purkinje neurons. (capecodmushroom.org)
  • Is this an early stage of parkinson's disease? (medhelp.org)
  • Basically, there are some features of Parkinson's disease, but there are additional features, such as cerebellar ataxia. (medhelp.org)
  • Some patients respond to the treatments for parkinson's disease, such as levodopa, for a time. (medhelp.org)
  • Brain structural and functional connectivity in Parkinson's disease with freezing of gait. (springer.com)
  • Alterations of functional and structural connectivity of freezing of gait in Parkinson's disease. (springer.com)
  • Parkinson's disease (PD) is the second most common neurodegenerative disease, mainly manifested by tremor, rigidity, bradykinesia and postural instability, and often an asymmetry of symptom severity of the left and right sides of the body. (umontreal.ca)
  • Some of the most prevalent types include Alzheimer's disease, cerebral palsy, epilepsy, Parkinson's disease and stroke. (wikipedia.org)
  • Introduction Studies with diffusion tensor imaging (DTI) analysis have produced conflicting information about the involvement of the cerebellar hemispheres in Parkinson's disease (PD). (unime.it)
  • Objective: Multiple system atrophy (MSA) is difficult to distinguish from idiopathic Parkinson's disease (PD) and idiopathic late-onset cerebellar ataxia (ILOCA). (elsevier.com)
  • To investigate this we compared patients with circumscribed cerebellar lesions and patients with Parkinson's disease (PD) on an approved test battery. (mpg.de)
  • Jankovic J, Le W. Animal models of Parkinson's disease. (bcm.edu)
  • Clinical insights: Parkinson's disease: Diagnosis, motor symptoms and non-motor features. (bcm.edu)
  • Handbook of Parkinson's disease. (bcm.edu)
  • In this chapter, after a short overview on neuroimmunological aspects, the most classic benign acute inflammatory cerebellar ataxia will be reviewed, followed by a discussion of more severe forms. (mackeith.co.uk)
  • Acute cerebellar ataxia is sometimes differentiated, in reviews and chapters, from acute cerebellitis, the latter being more severe (Gill 2010). (mackeith.co.uk)
  • In this chapter the two terms are considered as equivalent with benign and severe forms, acute cerebellar ataxia being a clinical description and acute cerebellitis referring to the pathophysiology. (mackeith.co.uk)
  • In the later section, the autoimmune diseases, which may start as an acute infl ammatory cerebellar ataxia but are usually relapsing, will be reviewed, followed by a discussion of differential diagnosis. (mackeith.co.uk)
  • Acute cerebellar ataxia is a disorder in children that causes a sudden loss of coordination. (medicalnewstoday.com)
  • Acute cerebellar ataxia is the most common cause of childhood ataxia. (medicalnewstoday.com)
  • Read on to learn more about acute cerebellar ataxia, including the symptoms and treatment. (medicalnewstoday.com)
  • What is acute cerebellar ataxia? (medicalnewstoday.com)
  • In children, the most common cause of acute cerebellar ataxia is a recent infection with bacteria or a virus. (medicalnewstoday.com)
  • For most children, acute cerebellar ataxia is a postinfection syndrome, which means that it usually appears after a child has an infection. (medicalnewstoday.com)
  • A child's symptoms may lead a doctor to suspect acute cerebellar ataxia, especially if the child has recently had an infection. (medicalnewstoday.com)
  • However, there is no specific test for acute cerebellar ataxia, which means that the doctor will begin the diagnosis by ruling out other potential causes. (medicalnewstoday.com)
  • Children with acute cerebellar ataxia typically have normal lumbar punctures, but there is sometimes an increase in white blood cells, indicating recent infection. (medicalnewstoday.com)
  • Acute cerebellar ataxia is not life threatening. (medicalnewstoday.com)
  • No specific treatment can cure acute cerebellar ataxia. (medicalnewstoday.com)
  • There is no specific treatment that cures acute cerebellar ataxia, but most children make a full recovery even without treatment. (medicalnewstoday.com)
  • When children do not recover within a few months, something other than an infection may have caused the acute cerebellar ataxia. (medicalnewstoday.com)
  • Here, we show that application of IgG purified from the patients' serum to cerebellar slices of mice acutely reduces the basal activity of Purkinje cells, whereas application to the flocculus of mice in vivo evokes acute disturbances in the performance of their compensatory eye movements. (nih.gov)
  • We conclude that autoantibodies against mGluR1 can cause cerebellar motor coordination deficits caused by a combination of rapid effects on both acute and plastic responses of Purkinje cells and chronic degenerative effects. (nih.gov)
  • Several diseases, including cerebellar stroke and acute cerebellitis, develop as comorbidities in patients with acute cerebellar ataxia. (medworm.com)
  • Beyond this, the primary cerebellar degenerations are progressive and incurable (the only real mimic is paraneoplastic cd). (healthtap.com)
  • Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). (nih.gov)
  • Increased awareness of the symptoms as well as responsible breeding practices are key to controlling the spread of this genetic equine disease. (msu.edu)
  • Suboccipital craniotomy and cervical laminectomy were performed in a patient with Camurati-Englemann's disease to relieve symptoms of medullary compression. (bmj.com)
  • This table lists symptoms that people with this disease may have. (nih.gov)
  • For most diseases, symptoms will vary from person to person. (nih.gov)
  • People with the same disease may not have all the symptoms listed. (nih.gov)
  • Do you have more information about symptoms of this disease? (nih.gov)
  • Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant, also known as adcadn , is related to narcolepsy and aceruloplasminemia , and has symptoms including excessive daytime somnolence , memory loss and cerebellar ataxia . (malacards.org)
  • 25 Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse. (malacards.org)
  • 2010 ) reported that after a 4 week intensive coordinative training cerebellar patients improved motor performance, reduced their ataxic symptoms, and sustained these benefits for up to one year. (jneurosci.org)
  • A subclass of these diseases that have neuromuscular symptoms are sometimes called mitochondrial myopathies . (wikipedia.org)
  • Although mitochondrial diseases vary greatly in presentation from person to person, several major clinical categories of these conditions have been defined, based on the most common phenotypic features, symptoms, and signs associated with the particular mutations that tend to cause them. (wikipedia.org)
  • First, symptoms of exposure to some chemical agents (e.g., ricin) might be similar to those of common diseases (e.g., gastroenteritis). (cdc.gov)
  • and 7) a syndrome (i.e., a constellation of clinical signs and symptoms in patients) suggesting a disease associated commonly with a known chemical exposure (e.g., neurologic signs or pinpoint pupils in eyes of patients with a gastroenteritis-like syndrome or acidosis in patients with altered mental status). (cdc.gov)
  • This condition may not only cause cerebellar damage on a temporary or permanent basis, but can also affect other tissues of the central nervous system, those including the cerebral cortex, spinal cord and the brainstem (made up of the medulla oblongata, midbrain, and pons). (wikipedia.org)
  • The spatial patterns of the vacuolation ("spongiform change"), surviving cells, and prion protein (PrP) deposition were studied in the various cell laminae of the cerebellar cortex in 11 cases of sporadic Creutzfeldt-Jakob disease (sCJD). (aston.ac.uk)
  • In addition, there is evidence that the pathological changes may spread across the different laminae of the cerebellar cortex. (aston.ac.uk)
  • Cairns, Nigel J. / Spatial patterns of the pathological changes in the cerebellar cortex in sporadic Creutzfeldt-Jakob disease (sCJD) . (aston.ac.uk)
  • This is a group of thankfully-uncommon illnesses, almost all of them genetic, in which the principal cells of the cerebellar cortex die off over time. (healthtap.com)
  • Neuropathology showed classical CJD changes with small cortical foci of large confluent vacuoles and relatively well-preserved cerebellar cortex. (blogspot.com)
  • In this special Missouri Medicine report, doctors examine advances in diagnosis and treatment of this devastating and costly neurodegenerative disease. (medhelp.org)
  • It is a severe neurodegenerative disease with monogenic autosomal recessive inheritance. (laboklin.co.uk)
  • Friedreich ataxia (FRDA), the most frequent hereditary ataxia, is an autosomal recessive neurodegenerative disease characterized by progressive ataxia and dysarthria, sensory neuropathy, deep sensory impairment, and signs of pyramidal tract involvement ( Harding, 1981 ). (jneurosci.org)
  • Therefore, the arginine test showed the highest diagnostic accuracy to distinguish MSA from both PD and ILOCA, and could be used in the clinical practice of these neurodegenerative diseases. (elsevier.com)
  • Fasano A, Laganiere SE, Lam S, Fox MD. Lesions causing freezing of gait localize to a cerebellar functional network. (springer.com)
  • An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. (jensenlab.org)
  • As a result, cerebellar lesions were associated with greater impairment than PD and SI in recognition and discrimination of cues of both facial and vocal expressions of differing basic emotions. (mpg.de)
  • Lesions of the cerebellar nodulus and uvula impair downward pursuit. (semanticscholar.org)
  • We studied sinusoidal (SIN) and step-ramp (SR) pursuit in two rhesus monkeys, before and after surgical lesions of the cerebellar nodulus and uvula (Nod/Uv). (semanticscholar.org)
  • Anatomical correlates of ocular motor deficits in cerebellar lesions. (semanticscholar.org)
  • My dad has been diagonised and the report says that he has a possibility for Pakinson plus syndrome-MSA-P .The MRI done showed evidence of cerebellar atrophy. (medhelp.org)
  • The following patient had an exceptionally prolonged cerebellar syndrome in absence of mental involvement. (annals.org)
  • To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects. (biomedcentral.com)
  • Stiff person syndrome (SPS) is a rare neurological disease with features of an autoimmune disease. (biomedcentral.com)
  • Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. (mendelian.co)
  • Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). (mendelian.co)
  • We report a rare case of Erdheim-Chester disease (ECD) presenting as a progressive cerebellar syndrome and diabetie insipidus. (elsevier.com)
  • The cerebellar syndrome most likely resulted from extensive histiocytic infiltration of the pons, particularly the basis pontis and middle cerebellar peduncles. (elsevier.com)
  • Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy . (arizona.edu)
  • The clinical spectrum ranges from pure cerebellar signs to constellations including spinal cord and peripheral nerve disease, cognitive impairment, cerebellar or supranuclear ophthalmologic signs, psychiatric problems, and seizures. (biomedcentral.com)
  • Balance control in subjects with pure cerebellar disease (SCA6) was compared with matched healthy subjects using a mix of traditional clinical and laboratory-based tests. (ucl.ac.uk)
  • Previously based in Prof Brian Day's 'Sensori-motor Control Group' in Queen Square (University College London), Lisa undertook a PhD investigating sensory mechansims of balance control in cerebellar disease. (plymouth.ac.uk)
  • In addition, one line revealed a cerebellar granule cell loss, whereas both lines had Purkinje cell arborization defects. (jneurosci.org)
  • In addition, the mGluR1-Abs block induction of long-term depression in cultured mouse Purkinje cells, whereas the cerebellar motor learning behavior of the patients is affected in that they show impaired adaptation of their saccadic eye movements. (nih.gov)
  • By contrast, GAD65-Ab from a patient with cerebellar ataxia (Ab CA) markedly decreased the NMDA-mediated turnover of glycerol. (biomedcentral.com)
  • [2] therefore, the test cannot proceed beyond the first step and no patient with cerebellar ataxia can correctly be described as Romberg's positive. (wikidoc.org)
  • Niemann-Pick type C1 (NPC) disease is a severe hereditary nervous system disorder associated with the storage of cholesterol and other lipids inside nervous tissue. (sciencemag.org)
  • Rosai-Dorfman disease (RDD) is an idiopathic histioproliferative disorder that rarely involves the CNS. (thejns.org)
  • the mutation that in one individual may cause liver disease might in another person cause a brain disorder. (wikipedia.org)
  • Familial Alzheimer's disease (FAD) is characterized by autosomal dominant heritability and early disease onset. (jci.org)
  • 1 Patients with SCAR8 were reported to show late-onset ataxia with slow progression and significant dysarthria as well as cerebellar atrophy. (neurology.org)
  • see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.EpidemiologyADCA-DN has been reported in 24 patients to date from Sweden, the United States, Italy and Brazil.Clinical descriptionDisease onset occurs in adulthood (from the ages of 30-40) with the onset of cerebellar ataxia, narcolepsy with cataplexy, sensorineural deafness and dementia. (malacards.org)
  • Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son. (uky.edu)
  • adult-onset MERS with cerebellar ataxia is rare. (medworm.com)
  • X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. (nih.gov)
  • We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. (nih.gov)
  • The authors present the case of a 14-year-old male with a cerebellar lesion having radiographic characteristics of Lhermitte-Duclos disease. (thejns.org)
  • After a period of observation with a presumptive diagnosis of Lhermitte-Duclos disease, the child underwent suboccipital craniotomy and resection of the lesion due to continuous suboccipital headaches. (thejns.org)
  • Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion in an Adult with Cerebellar Ataxia: A Case Report. (medworm.com)
  • Alzheimer's disease (AD) is the most prevalent cause of dementia worldwide, leading to a progressive loss of cognitive and functional abilities. (frontiersin.org)
  • Alzheimer's disease (AD) is the most common cause of dementia. (frontiersin.org)
  • YEBRA M, GARCÍA-MERINO A, ALBARRÁN F, VARELA J, ECHEVARRÍA J. Cerebellar Disease without Dementia and Infection with the Human Immunodeficiency Virus (HIV). (annals.org)
  • We describe an atypical neuropatholgical phenotype of sporadic Creutzfeldt-Jakob disease (sCJD) in a 64-year-old man presenting with a 5-month history of rapidly progressive dementia, comprising behavioral disturbances, memory complaints, disorientation and language alterations. (blogspot.com)
  • Background: We describe the phenomenon of crossed cerebellar diaschisis (CCD) in four subjects diagnosed with Alzheimer's disease (AD) according to the National Institute on Aging - Alzheimer Association (NIA-AA) criteria, in combination with 18F-FDG PET and 11C-PiB PET imaging. (eurekaselect.com)
  • Cerebellar normalization produced more extensive abnormalities in SPM analyses of ATD patients than global normalization. (stir.ac.uk)
  • Cerebellar ataxia can affect virtually any body part causing movement abnormalities. (biomedcentral.com)
  • Gait, truncal, and limb ataxia are often the most obvious cerebellar findings though nystagmus, saccadic abnormalities, and dysarthria are usually associated. (biomedcentral.com)
  • A neurological disease refers to any ailment of the central nervous system, including abnormalities of the brain, spinal cord and other connecting nerve fibres. (wikipedia.org)
  • Conclusions The DTI-based cerebellar abnormalities in PD could constitute an advance in the knowledge of this disease. (unime.it)
  • DTI parameters in superior and middle cerebellar peduncles were altered in PD-FOG compared with PD-nFOG and significantly correlated with FOG-Q. There were no differences in cerebellar volumes between PD-FOG and either PD-nFOG or HS. (springer.com)
  • MRI scan a year ago showed cerebellar atrophy and also atrophy in other parts of the brain. (steadyhealth.com)
  • MRI imaging may reveal cerebellar atrophy and dysmyelination. (arizona.edu)
  • Progressive cerebellar atrophy and dysmyelination have been documented by MRI. (mendelian.co)
  • Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia with unclear pathophysiology. (jci.org)
  • Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. (mendelian.co)
  • Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia . (nih.gov)
  • The present protocol is aimed at verifying the safety and efficacy of riluzole administration for a longer period, in a larger sample size of patients, with more stringent diagnostic criteria (hereditary cerebellar ataxia), respect to the above pilot study. (clinicaltrials.gov)
  • In some cases the disease is aqauired (is non-hereditary or non-genetic). (nih.gov)
  • Multiple sclerosis can also cause progressive balance problems that can mimic degenerative disease. (healthtap.com)
  • Tumors can also mimic degenerative disease. (healthtap.com)
  • What is progressive neuro-degenerative disease or any neuro-degenerative or atrophy cerebellar diseases or mental diseases? (healthtap.com)
  • Widespread vaccination has reduced the risk of cerebellar ataxia by preventing many diseases that can cause it. (medicalnewstoday.com)
  • Our analysis shows a progression of cerebellar GM volume changes throughout a continuous spectrum from early to late clinical stages of AD. (frontiersin.org)
  • only few studies specifically tackled the pattern of the cerebellar GM atrophy and its contribution to cognitive decline alongside its clinical progression. (frontiersin.org)
  • 1,2 Here, we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia and their unique clinical and genetic characteristics. (neurology.org)
  • Diagnosis of ADCA is based on clinical history, physical examination, genetic testing , and ruling out other diseases. (nih.gov)
  • Collectively, we demonstrated the distinct rsFCs patterns of cerebellar sub-regions with various functional networks, which were differentially impaired in the AD patients. (frontiersin.org)
  • We hypothesize that principal component analysis (PCA) of cerebellar shape characteristics will separate different disease groups into different archetypes based on the differential patterns of cerebellar atrophy. (jhu.edu)
  • Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. (diseaseinfosearch.org)
  • Genetic & Rare Diseases Information Center (GARD) GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish. (diseaseinfosearch.org)
  • In the following list you will find some of the most common rare diseases related to Cataract and Cerebellar atrophy that can help you solving undiagnosed cases. (mendelian.co)
  • Ataxia telangiectasia: a 'disease model' to understand the cerebellar control of vestibular reflexes. (semanticscholar.org)
  • Overexpression of Bmi1 in granule cell progenitors (GCPs) led to a decrease in cerebellar size due to decreased GCP proliferation and repression of the expression of cyclin genes, whereas Bmi1 overexpression in postmitotic granule cells improved cell survival in response to stress by altering the expression of genes in the mitochondrial cell death pathway and of Myc and Lef-1 . (biologists.org)
  • By identifying the genes that harbor the mutations underlying dog diseases we not only provide powerful diagnostic DNA tests for dog breeders their veterinarians and but also provide spontaneously occurring canine models for human diseases. (umsystem.edu)
  • This has enabled us to identify disease-causing genes in dogs with relevance for human health. (umsystem.edu)
  • We aim to report on seven children with cerebellar cysts showing absence of weakness and ruling out mutations within eight dystroglycanopathy genes and GPR56. (unisa.it)
  • Examples of the most common are described as introduction to this unusual collection of autoimmune diseases, for which in some cases the cause is known, and these may provide insight into the cause of those that are not. (redorbit.com)
  • Where millions of people are affected by neurological diseases on a worldwide scale, it has been identified that the number of different types of neurological diseases exceeds six hundred, any of which an individual can incur. (wikipedia.org)
  • In brain-based learning systems, internal models are fundamental for the regulation of behavioral repertoire, and their impairment can be linked to neurological diseases. (pnas.org)
  • Twenty LOPD patients with genetically and biochemically confirmed diagnosis of Pompe disease (age 53.7 ± 14.6 years, range 19 to 81) were studied. (springer.com)
  • We can help you with your rare disease diagnosis. (mendelian.co)
  • Patients diagnosed of spinocerebellar ataxia 3 (SCA3) or multiple system atrophy-cerebellar (MSA-C). (clinicaltrials.gov)
  • Brain MRIs in older individuals in the second decade of life reveal hypomyelinating leukodystrophy with thinning of the corpus callosum and cerebellar atrophy. (arizona.edu)
  • Brain imaging reveals progressive cerebellar atrophy and a foreshortened corpus callosum in all families. (arizona.edu)
  • Lysosomal α-glucosidase deficiency (Pompe disease) not only leads to glycogen accumulation in skeletal muscle, but also in the cerebral arteries. (springer.com)
  • In contrast to neuritic elements in cerebral SP in AD, ubiquitin-positive elements in cerebellar SP were not labeled with antibodies to phosphorylated neurofilament or tau proteins. (elsevier.com)
  • Subjects with cerebellar damage show deficits in implicit motor learning and for this reason they do not show this progressive deterioration of performance. (clinicaltrials.gov)
  • Temporal determinants of neonatal alcohol-induced cerebellar damage and motor performance deficits. (biomedsearch.com)
  • Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies. (nih.gov)
  • Ataxia is common in various forms of human prion diseases but there is a dearth of validated assessment tools and data on the subject. (bmj.com)
  • This case further highlights the complexity of the correlations between histopathological phenotype and PrPres isotype in prion diseases. (blogspot.com)
  • We generated transgenic mouse lines with targeted overexpression of Bmi1 in the cerebellar granule cell lineage, a cell type that has been shown to act as a cell of origin for medulloblastomas. (biologists.org)
  • FC of the cerebellar locomotor region and white matter (WM) properties of cerebellar peduncles correlate with FOG severity, supporting the hypothesis that abnormal cerebellar function underlies FOG in PD. (springer.com)
  • Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump. (ox.ac.uk)