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.
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.
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 general term for the complete loss of the ability to hear from both ears.
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.
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)

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)

Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.

Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:

1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions

Some examples of cerebellar diseases include:

1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal

Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.

Gait ataxia is a type of ataxia, which refers to a lack of coordination or stability, specifically involving walking or gait. It is characterized by an unsteady, uncoordinated, and typically wide-based gait pattern. This occurs due to dysfunction in the cerebellum or its connecting pathways, responsible for maintaining balance and coordinating muscle movements.

In gait ataxia, individuals often have difficulty with controlling the rhythm and pace of their steps, tend to veer or stagger off course, and may display a reeling or stumbling motion while walking. They might also have trouble performing rapid alternating movements like quickly tapping their foot or heel. These symptoms are usually worse when the person is tired or attempting to walk in the dark.

Gait ataxia can be caused by various underlying conditions, including degenerative neurological disorders (e.g., cerebellar atrophy, multiple sclerosis), stroke, brain injury, infection (e.g., alcoholism, HIV), or exposure to certain toxins. Proper diagnosis and identification of the underlying cause are essential for effective treatment and management of gait ataxia.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Psychomotor performance refers to the integration and coordination of mental processes (cognitive functions) with physical movements. It involves the ability to perform complex tasks that require both cognitive skills, such as thinking, remembering, and perceiving, and motor skills, such as gross and fine motor movements. Examples of psychomotor performances include driving a car, playing a musical instrument, or performing surgical procedures.

In a medical context, psychomotor performance is often used to assess an individual's ability to perform activities of daily living (ADLs) and instrumental activities of daily living (IADLs), such as bathing, dressing, cooking, cleaning, and managing medications. Deficits in psychomotor performance can be a sign of neurological or psychiatric disorders, such as dementia, Parkinson's disease, or depression.

Assessment of psychomotor performance may involve tests that measure reaction time, coordination, speed, precision, and accuracy of movements, as well as cognitive functions such as attention, memory, and problem-solving skills. These assessments can help healthcare professionals develop appropriate treatment plans and monitor the progression of diseases or the effectiveness of interventions.

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

An "Orphan Drug" is a pharmaceutical agent that is developed to treat a rare medical condition, disorder, or disease that affects a small number of people in comparison to other conditions. In the United States, this is defined as a condition or disease that affects fewer than 200,000 people nationwide. Due to the limited market for these drugs, pharmaceutical companies are often reluctant to invest in their development and production.

"Orphan Drug Production," therefore, refers to the manufacturing process of these rare disease treatments. To encourage the development and production of orphan drugs, governments and regulatory agencies offer incentives such as tax credits, grants, and exclusive marketing rights for a certain period of time. These measures help offset the higher costs and lower profit margins associated with developing and producing orphan drugs, ultimately benefiting patients with rare diseases who often have few or no treatment options available to them.

A rare disease, also known as an orphan disease, is a health condition that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. There are over 7,000 rare diseases identified, and many of them are severe, chronic, and often life-threatening. The causes of rare diseases can be genetic, infectious, environmental, or degenerative. Due to their rarity, research on rare diseases is often underfunded, and treatments may not be available or well-studied. Additionally, the diagnosis of rare diseases can be challenging due to a lack of awareness and understanding among healthcare professionals.

Deafness is a hearing loss that is so severe that it results in significant difficulty in understanding or comprehending speech, even when using hearing aids. It can be congenital (present at birth) or acquired later in life due to various causes such as disease, injury, infection, exposure to loud noises, or aging. Deafness can range from mild to profound and may affect one ear (unilateral) or both ears (bilateral). In some cases, deafness may be accompanied by tinnitus, which is the perception of ringing or other sounds in the ears.

Deaf individuals often use American Sign Language (ASL) or other forms of sign language to communicate. Some people with less severe hearing loss may benefit from hearing aids, cochlear implants, or other assistive listening devices. Deafness can have significant social, educational, and vocational implications, and early intervention and appropriate support services are critical for optimal development and outcomes.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Spinocerebellar ataxias (SCAs) are a group of genetic disorders that affect the cerebellum, which is the part of the brain responsible for coordinating muscle movements. SCAs are characterized by progressive problems with balance, speech, and coordination. They are caused by mutations in various genes that result in the production of abnormal proteins that accumulate in neurons, leading to their degeneration.

There are over 40 different types of SCAs, each caused by a different genetic mutation. Some of the more common types include SCA1, SCA2, SCA3, SCA6, and SCA7. The symptoms and age of onset can vary widely depending on the type of SCA.

In addition to problems with coordination and balance, people with SCAs may also experience muscle weakness, stiffness, tremors, spasticity, and difficulty swallowing or speaking. Some types of SCAs can also cause visual disturbances, hearing loss, and cognitive impairment. Currently, there is no cure for SCAs, but treatments such as physical therapy, speech therapy, and medications can help manage the symptoms.

"Cerebellar Diseases of Dogs and Cats". Vin.com. Delauche A, Franklin R, Marsella R, Garosi L (February 2019). "Brain: ... Cerebellar hypoplasia - the condition as it occurs in human beings "Cerebellar Hypoplasia Information Page". "Congenital and ... lysosomal storage diseases In 2004, a study was published that linked ketamine to post-anesthetic cerebellar dysfunction in ... cerebellar disease". Vet Stream. ISSN 2398-2950. Hartmann, Katrin (January 2005). "Feline infectious peritonitis". The ...
Parkinson's disease and stroke. More specifically, the neurological diseases that can cause cerebellar degeneration include: ... There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar ... Like any other disease, treatment for cerebellar degeneration is contingent on the underlying cause, unique to each patient. As ... "Cerebellar degeneration". Genetic and Rare Diseases Information Center (GARD) - an NCATS Program. U.S. National Institutes of ...
Millen KJ, Gleeson JG (February 2008). "Cerebellar development and disease". Curr. Opin. Neurobiol. 18 (1): 12-9. doi:10.1016/j ... Cerebellar agenesis can be caused by mutations in the PTF1A gene. Velioglu SK, Kuzeyli K, Ozmenoglu M (September 1998). " ... Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum controls smooth ... As children with cerebellar agenesis get older, their movements usually improve. It can co-exist with other severe ...
Autosomal Recessive Cerebellar Ataxias. May 1, 2013. Orphonet Journal of Rare Diseases. 17 November 2006 This article ... Orphanet Journal of Rare Diseases "Autosomal Recessive Cerebellar Ataxias." Fracis, Palau Beaudin, Marie; Matilla-DueƱas, ... Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs ... Most cases of autosomal recessive cerebellar ataxia are early onset, usually around the age of 20. People with this type of ...
... (CA), also called cerebellar cortical abiotrophy (CCA), is a genetic neurological disease in animals, ... There are other diseases that lead to cerebellar degeneration, but the loss of Purkinje cells is a clear way to diagnose ... 1985). "Cerebellar Disease in Arabian Horses". Proceedings of the 21st annual convention of the American Association of Equine ... Cerebellar abiotrophy in horses was originally thought to be a form of cerebellar hypoplasia (CH) and was described as such in ...
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). " ...
... (also known as Der Kaloustian-Jarudi-Khoury syndrome) is an autosomally recessive disease that was ... Medicine portal Rare disease "Orphanet: Corneal cerebellar syndrome". Orphanet. October 2006. Retrieved 18 May 2016. "OMIM ... that the disease is different from a disease known as spastic ataxia-corneal dystrophy syndrome that had been found a year ... Corneal-cerebellar syndrome differs from the spastic ataxia-corneal dystrophy syndrome by causing intellectual disability. ...
Lechtenberg, R.; Gilman, S. (1978). "Speech Disorders in Cerebellar Disease" (PDF). Ann. Neurol. 3 (4): 285-290. doi:10.1002/ ... Lyme disease Stroke Tay-Sachs disease, and late-onset Tay-Sachs disease (LOTS) Transient ischemic attack, a 'mini stroke' ... Kent, RD; Netsell, R; Abbs, JH (September 1979). "Acoustic characteristics of dysarthria associated with cerebellar disease". J ... Huntington's disease, Niemann-Pick disease, and Friedreich's ataxia.[citation needed] Toxic and metabolic conditions include: ...
"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy - About the Disease - Genetic and Rare Diseases Information ... "ZFIN Human Disease: autosomal dominant cerebellar ataxia, deafness and narcolepsy". zfin.org. Retrieved 2022-09-09. " ... "Autosomal dominant cerebellar ataxia, deafness, and narcolepsy". 16 June 2022. "Orphanet: Autosomal dominant cerebellar ataxia ... Autosomal dominant cerebellar ataxia, deafness, and narcolepsy is a rare progressive genetic disorder that primarily affects ...
Claus, D; Schƶcklmann, 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 Ataxia in Patients with Mitochondrial DNA Disease". Journal of Neuropathology & Experimental Neurology. 71 (2): 148- ... diabetes Huntington's disease cancer Alzheimer's disease, Parkinson's disease bipolar disorder, schizophrenia, aging and ... Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because ... Mitochondrial disease can manifest in many different ways. Examples of mitochondrial diseases include: Mitochondrial myopathy ...
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. ...
"ZFIN Human Disease: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly". zfin.org. Retrieved ... "Infantile Cerebral and Cerebellar Atrophy". Jewish Genetic Disease Consortium. Retrieved 2022-07-14. Kaufmann, Rami; ... "Postnatal progressive microcephaly, seizures, and brain atrophy - About the Disease - Genetic and Rare Diseases Information ... Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare hereditary autosomal recessive ...
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.[citation ... is characteristic of cerebellar diseases. Many clinical tests may be employed to test for such disturbances. Alternating ...
"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): ... Methylmercury poisoning is also known as Minamata disease. As early as 1865, two workers in the laboratory of Edward Frankland ... Diethylmercury Mercury poisoning Minamata disease Methylmercury "dimethylmercury - Compound Summary". PubChem Compound. US: ... A rare case of Minamata disease". Forensic Science, Medicine and Pathology. 16 (3): 504-509. doi:10.1007/s12024-020-00247-y. ...
"Delayed Cerebellar Disease and Death after Accidental Exposure to Dimethylmercury". New England Journal of Medicine. 338 (23): ...
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Another rare disease in the breed is neonatal cerebellar cortical degeneration. Affected puppies are slow, have lower co- ... "Neonatal Cerebellar Cortical Degeneration". Animal Health Trust. Archived from the original on 23 March 2013. Retrieved 13 May ... Beagles are considered a chondrodystrophic breed, meaning that they are prone to types of disk diseases. In rare cases, beagles ... "Frequency of the neonatal cerebellar cortical degeneration (NCCD) mutations in beagles in the UK" (PDF). Kennel Club Genetics ...
"Marie's ataxia": an hereditary disease of the nervous system, with cerebellar ataxia. "Marie-Foix-Alajouanine syndrome": ... Named along with German neurologist Adolph StrĆ¼mpell (1853-1925). The disease is sometimes referred to as "Bekhterev Disease"; ... Charcot-Marie-Tooth disease Archived 2011-05-14 at the Wayback Machine @ Who Named It Tumblety, Joan (2012). Remaking the Male ... His analysis of the disease was an important contribution in the emerging field of endocrinology. Marie is also credited as the ...
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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 ...
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 ...
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 ...
"Infantile cerebellar retinal degeneration - About the Disease - Genetic and Rare Diseases Information Center". rarediseases. ... "Orphanet: Infantile cerebellar retinal degeneration". "Infantile Cerebellar-Retinal Degeneration , Hereditary Ocular Diseases ... "Rare Disease Series #17: Infantile Cerebellar-retinal Degeneration". 3billion Blog. 2021-01-15. Retrieved 2022-05-04. Ha, Dong ... Infantile cerebellar retinal degeneration is a rare hereditary neurological disorder which primarily affects the eyes and the ...
"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 ... Rare diseases, Slow virus diseases, Rare infectious diseases). ... Progression of the disease can be divided into two stages:[ ... the disease can be managed with anticonvulsants, physiotherapy, etc.[citation needed] PRP is very rare and similar to SSPE but ... sometimes myoclonic cerebellar ataxia spastic weakness retinopathy, optic atrophy frank dementia leading to coma spasticity and ...
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 can intensify in response to fatigue, strong emotions, low blood sugar, cold and heat, caffeine, ...
... 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 ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: SCA43 ... Disease Ontology Browser cerebellar ataxia type 43 (DOID:0111745) Alliance: disease page Synonyms: SCA43 Alt IDs: OMIM:617018, ... Definition: An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, ...
Hand-ShĆ¼ller-Christian disease, Letterer-Siwe disease, and eosinophilic granuloma. Erdheim-Chester disease differs from ... Cerebral Erdheim-Chester disease: report of two cases with progressive cerebellar syndrome with dentate abnormalities on ... Cerebral Erdheim-Chester disease: report of two cases with progressive cerebellar syndrome with dentate abnormalities on ... 1995) Erdheim-Chester disease and slowly progressive cerebellar dysfunction. J Neurol Neurosurg Psychiatry 58:238-240. ...
... and cerebellar ataxia due to duplication of mitochondrial DNA. ... Disease onset is in the first or second decade. Elevated CSF ... About Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. Many rare diseases ... People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as ... People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as ...
It focuses on three major neurological diseases that either present in acute or neurodegenerative forms-Parkinsons disease, ... cerebellar ataxia, and cortical stroke. Each of the diseases affects primarily different brain structures, namely the basal ... This review addresses the role of exercise as an intervention for treating neurological disease. ... It focuses on three major neurological diseases that either present in acute or neurodegenerative forms-Parkinsons disease, ...
A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement. *Mark ... Cerebellar imaging abnormalities were observed in 73-86% (cohort and in silico respectively) of EOA-genes independently of ... Cerebellar imaging abnormalities were observed in 73-86% (cohort and in silico respectively) of EOA-genes independently of ... OBJECTIVES: Early onset ataxia (EOA) concerns a heterogeneous disease group, often presenting with other comorbid phenotypes ...
Niemann-Pick disease type C (NPC) is a recessive genetic lysosomal storage disease caused by mutations in the NPC1 or NPC2 ... suggesting that cerebellar microglia are more phagocytic. To determine the impact of NPC1 deficiency in cerebellar microglia ... in the human NPC disease, where the classic presentation of the disease often occurs in middle to late childhood, early ... a reduced number of cerebellar granule cells and reductions in cerebellar lobule size at the end of postnatal development have ...
Cerebellar disorders are problems with the cerebellum, an area of the brain that controls coordination and balance. Ataxias is ... Spinocerebellar Ataxias Including Machado-Joseph Disease (National Institute of Neurological Disorders and Stroke) ... Acute cerebellar ataxia (Medical Encyclopedia) Also in Spanish * Multiple system atrophy - cerebellar subtype (Medical ... Cerebellar Hypoplasia (National Institute of Neurological Disorders and Stroke) * Dyssynergia Cerebellaris Myoclonica (National ...
TIME TO ACT - IMPROVING RARE DISEASE DIAGNOSIS AND SOLVING THE UNSOLVED RARE DISEASE THROUGH COLLABORATION IN EUROPE. May 11, ... Patient information - Cerebellar Ataxia & HSPs - Paediatric. Please note that this section includes useful information from a ... The European Reference Network representatives and people living with a rare disease across Europe, call on the EU institutions ...
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, ... Immune mediated phenomenon with no structural damage is another possible mechanism leading to cerebellar ataxia. Cerebellar ...
... is a rare neurological disease characterized by intrinsic spontaneous degeneration of premature neuronal cells. CA most ... Cerebellar Abiotrophy. Cerebellar abiotrophy (CA) is a rare neurological disease characterized by intrinsic spontaneous ... McAuliffe, S. B Knottenbelt and Pascoes Color Atlas of Diseases and Disorders of the Horse Elsevier Health Sciences. 2014 ... The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses ...
Information on Myoclonus cerebellar ataxia deafness, which may include symptoms, causes, inheritance, treatments, orphan drugs ... Categories: Congenital and Genetic Diseases, Ear, Nose, and Throat Diseases, Nervous System Diseases ... Dont fight Myoclonus cerebellar ataxia deafness alone!. Find your community on the free RareGuru App. Connect with caregivers ... The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare ...
... just been diagnosed with this disease. I have read a lot of info on the www but like to hear of others experiences. Many thanks ... Does anyone know anyone with cerebellar atrophy? My 75 year old sister has, after years of tests and examinations, ... Cerebellar atrophy info. Does anyone know anyone with cerebellar atrophy? My 75 year old sister has, after years of tests and ... Was your sister told of a likely cause for her condition Mike, no mention of ataxia or other disease?. Im just wondering where ...
... just been diagnosed with this disease. I have read a lot of info on the www but like to hear of others experiences. Many thanks ... Does anyone know anyone with cerebellar atrophy? My 75 year old sister has, after years of tests and examinations, ... Was your sister told of a likely cause for her condition Mike, no mention of ataxia or other disease?. Im just wondering where ... Sorry to hear of your sisters diagnosis - is her diagnosis one of stand alone cerebellar atrophy or in conjunction with ALS?. ...
Home Neuroradiology Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) -MRI Lhermitte-Duclos disease (dysplastic ... Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) -MRI Reviewed by Sumer Sethi on Wednesday, January 13, 2010 ... Interstitial Lung Disease Series-Part 1- Usual Interstitial pneumonia. ILD is one of the most difficult topics for the ... I live in arkansas, and have a relative diagnosed with dysplastic cerebellar gangliocytoma after 9 months, he is literally ...
"Cerebellar Diseases of Dogs and Cats". Vin.com. Delauche A, Franklin R, Marsella R, Garosi L (February 2019). "Brain: ... Cerebellar hypoplasia - the condition as it occurs in human beings "Cerebellar Hypoplasia Information Page". "Congenital and ... lysosomal storage diseases In 2004, a study was published that linked ketamine to post-anesthetic cerebellar dysfunction in ... cerebellar disease". Vet Stream. ISSN 2398-2950. Hartmann, Katrin (January 2005). "Feline infectious peritonitis". The ...
A 21-year-old woman with subacute cerebellar degeneration was found to have Hodgkin lymphoma. Radiation therapy for the ... Cerebellar Degeneration With Hodgkin Disease: An Immunological Study. John L. Trotter, MD; Barry A. Hendin, MD; C. Kirk ... Cerebellar Degeneration With Hodgkin Disease: An Immunological Study. Arch Neurol. 1976;33(9):660-661. doi:10.1001/archneur. ... A 21-year-old woman with subacute cerebellar degeneration was found to have Hodgkin lymphoma. Radiation therapy for the ...
Cerebellar Diseases / genetics* * Cerebellar Diseases / physiopathology * Child * Humans * Intellectual Disability / ... A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy Neuropediatrics. 1987 Aug;18(3):164-9. ... CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose ... CT scan revealed cerebellar atrophy. Muscle biop ā€¦ ...
Cerebellar Ataxia & Hereditary Spastic Paraplegias (HSPs). About the Page. The Cerebellar Ataxia & Hereditary Spastic ... ERN-RND centres for Cerebellar Ataxia & HSPs. *Centres and contact details for Cerebellar Ataxia ... Paraplegias Disease Knowledge Page provides reference information on care of cerebellar ataxia and hereditary spastic ...
Ataxia telangiectasia: A "disease model" to understand the cerebellar control of vestibular reflexes. / Shaikh, Aasef G.; Marti ... Ataxia telangiectasia : A "disease model" to understand the cerebellar control of vestibular reflexes. In: Journal of ... Ataxia telangiectasia: A "disease model" to understand the cerebellar control of vestibular reflexes. ... Ataxia telangiectasia: A "disease model" to understand the cerebellar control of vestibular reflexes. Journal of ...
... originating in utero of both pons and cerebellar hemispheres. ā€¦ ... Cerebellar Diseases / pathology* * Cerebral Ventricles / ... Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of ... Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? Eur J ... Our cases further extend the phenotype of the cerebellar syndromes with anterior horn cell involvement to include a childhood ...
Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinsons disease or cerebellar ataxia. In: ... Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinsons disease or cerebellar ataxia. ... Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinsons disease or cerebellar ataxia. / ... Supervised learning of postural tasks in patients with poststroke hemiparesis, Parkinsons disease or cerebellar ataxia. ...
Alterations in cerebellar germinal cell division induced by graftā€versusā€host disease. / Griffin, W. S T; Crom, E. N.; Head, J ... Alterations in cerebellar germinal cell division induced by graftā€versusā€host disease. Journal of Comparative Neurology. 1981 ... Griffin, WST, Crom, EN & Head, JR 1981, Alterations in cerebellar germinal cell division induced by graftā€versusā€host disease ... Dive into the research topics of Alterations in cerebellar germinal cell division induced by graftā€versusā€host disease. ...
SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease ... SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease ...
The susceptibility increased as a function of volume for both the HC group and disease groups in the DN and IN (. p. , .001) ... Visualizing the deep cerebellar nuclei using quantitative susceptibility mapping: An application in healthy controls, ... The visualization and identification of the deep cerebellar nuclei (DCN) (dentate [DN], interposed [IN] and fastigial nuclei [ ... one Parkinsons disease (PD) patients, 39 essential tremor patients, and 80 HCs were enrolled. The PD patients were subdivided ...
Von Hippel-Lindau disease with renal cell carcinoma and multiple cerebellar and spinal hemangioblastomas without retinal ... There was reported history of Von Hippel-Lindau disease (VHL) in his mother, who was operated for a cerebellar hemangioblastoma ... On investigations, magnetic resonance imaging brain showed bilateral cerebellar hemangioblastomas and a tiny spinal ... Complete excision of bilateral cerebellar hemangioblastomas was performed. Histopathological examination and ...
... progressive cerebellar atrophy, and dilated cardiomyopathy. We identified regions of homozygosity and performed whole exome ... cerebellar atrophy, and cardiomyopathy constitute a rare association. We used homozygosity mapping and whole exome sequencing ... Cerebellar atrophy and dystonia are observed in neurodegenerative diseases, such as Wilson disease, acanthocytosis, ... Dystonia, cerebellar atrophy and cardiomyopathy constitute a very rare association, observed in rare mitochondrial disease and ...
Cerebellar syndrome as a complication of COVID-19 disease.. SĆ­n R, Sedlacek D, Cmorej P, Peran D, Peran D, Peran D, Peran D. ... SĆ­n R, Sedlacek D, Cmorej P, Peran D, Peran D, Peran D, Peran D. Cerebellar syndrome as a complication of COVID-19 disease. ... COVID-19 disease is caused by the new coronavirus SARS-CoV-2. The disease first appeared in China in 2019 and quickly spread ... Clinical and laboratory characteristics of the COVID-19 disease in adult patients.. Å Ć­n R, Kubiska M, Cmorej P, VĆ”chalovĆ” J. ...
Other cerebellar ataxia. ,12. 334.3. 18 (1). Cerebellar ataxia in diseases classified elsewhere. ,12. 334.4. 0 (0). ... Other extrapyramidal disease and abnormal movement disorders. ,12. 333. 0 (0). Other degenerative diseases of the basal ganglia ... Human Prion Disease and Relative Risk Associated with Chronic Wasting Disease W. John Papeā€ , Jeri Forster*, C. Alan Anderson ... Human Prion Disease and Relative Risk Associated with Chronic Wasting Disease. ...
Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) PTEN. Extraventricular neurocytoma FGFR (FGFR1-TACC1 fusion), ... one tumor entity could develop into another tumor entity with a different grade over the course of disease progression. [1] ...
Delayed cerebellar disease and death after accidental exposure to dimethylmercury. N Eng J Med 1998;338:1672--76. ... Centers for Disease Control and Prevention. 1600 Clifton Rd, MailStop E-90, Atlanta, GA 30333, U.S.A ... In addition, false-positives might be noted for pregnant women and for patients with liver and renal disease (46). ... US Army Medical Research Institute of Infectious Diseases. Ricin. In: Eitzen E, Pavlin J, Cieslak T, Christopher G, Culpepper R ...
  • Cerebellar abiotrophy (CA) is a rare neurological disease characterized by intrinsic spontaneous degeneration of premature neuronal cells. (horsedvm.com)
  • A 21-year-old woman with subacute cerebellar degeneration was found to have Hodgkin lymphoma. (jamanetwork.com)
  • In 13 subjects with ataxia telangiectasia (A-T), a disease associated with profound cerebellar cortical degeneration, we found abnormalities of several key vestibular reflexes. (johnshopkins.edu)
  • Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1? (nih.gov)
  • The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. (nih.gov)
  • However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy without pontine involvement. (nih.gov)
  • 1 , 2 Furthermore, better understanding of the immune aetiology for some of the acquired ataxias (eg, paraneoplastic cerebellar degeneration, gluten ataxia, anti-GAD ataxia, primary autoimmune cerebellar ataxia) 3-5 meant that the overall diagnostic yield of investigating sporadic ataxias has improved considerably in recent years. (bmj.com)
  • We identify distinct computational impairments in male and female participants with cerebellar degeneration (CD) or Parkinson's disease (PD). (jneurosci.org)
  • Participants with Parkinson's disease showed a greater impairment as the number of operations increased, and participants with cerebellar degeneration showed a greater impairment as the magnitude of the operations increased. (jneurosci.org)
  • Amyotrophic Lateral Sclerosis (ALS) and Other Motor Neuron Diseases (MNDs) Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei. (msdmanuals.com)
  • Multiple System degeneration in dogs (CMSD) is a genetic disease inherited in an autosomal recessive manner. (genomia.cz)
  • It is characterized by degeneration of neurons in one of the midbrain region and loss of cerebellar cells. (genomia.cz)
  • The course and symptoms of the canine multiple system degeneration are similar to juvenile ParkinsonĀ“s disease in humans that is caused by a gene located in the same regions as the examined gene SERAC1. (genomia.cz)
  • Molecular genetic studies in canine inherited diseases including neonatal cerebellar ataxia, degenerative myelopathy and multiple system degeneration. (genomia.cz)
  • HALLETT, M. Procedural learning in Parkinson's disease and cerebellar degeneration. (bvsalud.org)
  • Distal axonopathy" is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring concurrently in the peripheral nervous system (PNS) and in selected tracts of the central nervous system (CNS). (cdc.gov)
  • Scan only shows cerebellar atrophy, no ALS. (mndassociation.org)
  • Hi Mike, Sorry to hear of your sister's diagnosis - is her diagnosis one of stand alone cerebellar atrophy or in conjunction with ALS? (mndassociation.org)
  • It's more common to have frontotemporal atrophy alongside ALS, but that's not to say that cerebellar atrophy doesn't happen. (mndassociation.org)
  • Does anyone know anyone with cerebellar atrophy? (mndassociation.org)
  • CT scan revealed cerebellar atrophy. (nih.gov)
  • Dystonia, cerebellar atrophy, and cardiomyopathy constitute a rare association. (biomedcentral.com)
  • We report on a boy born from consanguineous healthy parents, who presented at three years of age with rapidly progressing dystonia, progressive cerebellar atrophy, and dilated cardiomyopathy. (biomedcentral.com)
  • Dystonia, cerebellar atrophy and cardiomyopathy constitute a very rare association, observed in rare mitochondrial disease and organic acidemia. (biomedcentral.com)
  • FDG-PET hypometabolism is more sensitive than MRI atrophy in Parkinson's disease: A whole-brain multimodal imaging meta-analysis. (mpg.de)
  • CT may show ventricular enlargement due to cerebellar atrophy and white matter disease. (merckmanuals.com)
  • Two patients with Erdheim-Chester disease with progressive cerebellar dysfunction and pyramidal signs are reported on. (bmj.com)
  • 2 Only a few patients with cerebellar dysfunction have been described. (bmj.com)
  • 3 4 We report on two patients with Erdheim-Chester disease with slowly progressive cerebellar dysfunction, associated with pyramidal symptoms. (bmj.com)
  • In 1994, after three years of progressive neurological dysfunction, diagnosis of Erdheim-Chester disease was made by analysis of biopsies of the femur bones, showing infiltration with foamy histiocytes lacking Birbeck granules and S-100 protein, and with few lymphocytes. (bmj.com)
  • Cerebellar dysfunction was slowly progressive. (bmj.com)
  • Ataxia is the term used to describe symptoms and signs resulting from cerebellar dysfunction, manifesting with a combination of gait instability, limb incoordination, slurred speech and nystagmus. (bmj.com)
  • [ 1 ] Neurogenic bladder is a term applied to urinary bladder malfunction due to neurologic dysfunction emanating from internal or external trauma, disease, or injury. (medscape.com)
  • An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (jax.org)
  • Our objective was to assess the effect of the handkerchief guide on gait in patients with cerebellar ataxia. (go.jp)
  • Methods: Gait analysis was carried out on seven patients with degenerative cerebellar disease (DCD), seven patients with unilateral cerebellar vascular disease (CVD), and seven healthy control (HC) subjects. (go.jp)
  • Results: The HGW attenuated body-sway, lengthened step, and increased gait velocity in patients with cerebellar ataxia. (go.jp)
  • Gait in elderly with cerebral small vessel disease. (thieme-connect.com)
  • Treatment of cerebellar disorders depends on the cause. (medlineplus.gov)
  • Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of these disorders remains difficult. (nih.gov)
  • The National Institute on Deafness and Other Communication Disorders estimates that 615,000 people in the United States currently have a diagnosis of MĆ©niĆØre's disease, with doctors diagnosing about 45,500 new cases annually. (medicalnewstoday.com)
  • Cerebellar hypoplasia (CH) is a neurological condition in which the cerebellum is smaller than usual or not completely developed. (wikipedia.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)
  • The term pontocerebellar hypoplasia is used when there is a structural defect, originating in utero of both pons and cerebellar hemispheres. (nih.gov)
  • Background Cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. (bmj.com)
  • Ataxias are rare and can be caused by a variety of disease processes that can broadly be divided into genetic or acquired. (bmj.com)
  • The presence of auto-antibodies that target synaptic machinery proteins was documented recently in immune-mediated cerebellar ataxias. (springer.com)
  • GAD65 is involved in the synthesis, packaging, and release of GABA, whereas the other three play important roles in the induction of long-term depression (LTD). Thus, the auto-antibodies toward these synaptic molecules likely impair fundamental synaptic machineries involved in unique functions of the cerebellum, potentially leading to the development of cerebellar ataxias (CAs). (springer.com)
  • Autoimmunity affects the cerebellum, leading to the manifestations of the cerebellar ataxias (CAs), termed immune-mediated cerebellar ataxia (IMCAs). (springer.com)
  • Each of the diseases affects primarily different brain structures, namely the basal ganglia, the cerebellum, and the cerebrum. (humankinetics.com)
  • Notably, we discuss how the counting and chaining operations relate to cerebellar and basal ganglia function in other task domains (e.g., motor processes). (jneurosci.org)
  • Altered Cerebellar Oscillations in Parkinson's Disease Patients during Cognitive and Motor Tasks, 185-196. (usd.edu)
  • Unraveling connectivity changes due to dopaminergic therapy in chronically treated Parkinson's disease patients. (mpg.de)
  • Patients with a history of immunodeficiency (except for acquired hypogammaglobulinemia), patients with active autoimmune disease requiring systemic immunosuppressive therapy (i.e. (moffitt.org)
  • Patients with a history of autoimmune disease resulting in end-organ injury are not eligible unless attributable to primary disease which is target of this study. (moffitt.org)
  • Arnold CA, Moreira RK, Lam-Himlin D, De Petris G, Montgomery E. Whipple disease a century after the initial description: increased recognition of unusual presentations, autoimmune comorbidities, and therapy effects. (medscape.com)
  • Disease onset is in the first or second decade. (nih.gov)
  • OBJECTIVES: Early onset ataxia (EOA) concerns a heterogeneous disease group, often presenting with other comorbid phenotypes such as myoclonus and epilepsy. (lu.se)
  • A 28 year old female from North India presented with a short febrile illness followed by an acute onset cerebellar ataxia, anemia, thrombocytopenia and transaminitis. (biomedcentral.com)
  • Our cases further extend the phenotype of the cerebellar syndromes with anterior horn cell involvement to include a childhood onset and protracted course and further prove that this neurodegenerative disorder may start in utero or later in life. (nih.gov)
  • The clinical pattern of cerebellar involvement, rapidity of onset, pace of progression, additional clinical features in combination with appropriate investigations are essential in reaching a diagnosis. (bmj.com)
  • Nonmotor symptoms and signs are integral to PD at onset and throughout the disease course, but to date their treatment is largely unsatisfactory [ 9 ]. (hindawi.com)
  • It focuses on three major neurological diseases that either present in acute or neurodegenerative forms-Parkinson's disease, cerebellar ataxia, and cortical stroke. (humankinetics.com)
  • Auto-antibodies induced neurological diseases show various clinical phenotypes (see details in Table 1 ). (springer.com)
  • Locomotion is affected in many different neurological diseases, and is an interesting candidate to study symptoms in detail and the effect of possible therapies of these diseases. (noldus.com)
  • Neurological examination showed cerebellar ataxia and dysmetria of four limbs, tetrapyramidal syndrome with brisk deep tendon reflexes of four limbs, and bilateral Babinski's signs. (bmj.com)
  • This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. (rareguru.com)
  • Do you have information about a disease, disorder, or syndrome? (rareguru.com)
  • A systemic immunological syndrome, graftā€versusā€host disease (GVHD), which does not cause inflammation or cell death in the cerebellum, is shown to retard granule cell production by decreasing the rate of DNA synthesis (S phase) and prolonging mitosis (M), at metaphase. (elsevierpure.com)
  • Cerebellar syndrome as a complication of COVID-19 disease. (nel.edu)
  • An association with Aicardi syndrome and von Hippel-Lindau disease (as well as the more frequently associated hemangioblastoma ) is recognized. (radiopaedia.org)
  • They build public awareness of the disease and are a driving force behind research to improve patients' lives. (nih.gov)
  • Connect with other caregivers and patients with Myoclonus cerebellar ataxia deafness and get the support you need. (rareguru.com)
  • Supervised learning of different postural tasks in patients with lesions of the motor cortex or pyramidal system (poststroke hemiparesis: 20 patients), nigro-striatal system (Parkinson's disease: 33 patients) and cerebellum (spinocerebellar ataxia: 37 patients) was studied. (cmich.edu)
  • In "Bricks", the initial deficit was greater in the groups of parkinsonian and cerebellar patients than in hemiparetic patients. (cmich.edu)
  • However, learning was more efficient in parkinsonian than in hemiparetic and cerebellar patients. (cmich.edu)
  • After 10 days of training, the hemiparetic and cerebellar patients completed the acquisition at a certain level whereas the parkinsonian patients showed the ability for further improvement. (cmich.edu)
  • Seventyā€one Parkinson's disease (PD) patients, 39 essential tremor patients, and 80 HCs were enrolled. (mcmaster.ca)
  • Clinical and laboratory characteristics of the COVID-19 disease in adult patients. (nel.edu)
  • Å Ć­n R, Kubiska M, Cmorej P, VĆ”chalovĆ” J. Clinical and laboratory characteristics of the COVID-19 disease in adult patients. (nel.edu)
  • We describe the causes of ataxia in 1500 patients with cerebellar ataxia. (bmj.com)
  • Conclusions: The HGW stabilized upright posture in patients with cerebellar ataxia during level-ground walking, probably by enabling subconscious postural adjustments to minimize changes in the arm and hand position relative to trunk, and in arm configuration. (go.jp)
  • The handkerchief guide may be useful for walk training in patients with cerebellar ataxia. (go.jp)
  • Dr Tamara Jamaspishvili is a research pathologist, translational research scientist focusing on developing, evaluating, validating, and applying tissue-based prognostic and predictive biomarkers and models for improved disease prognostication and management of cancer patients. (upstate.edu)
  • Long term levodopa-induced motor complications include motor fluctuations and dyskinesia and affect almost all PD patients at some point during the disease course, with relevant implications in global health status [ 11 ]. (hindawi.com)
  • These microphages also can be detected in infection due to Mycobacterium avium intracellulare, cryptococcosis, or other parasitic organisms (usually observed in patients who are immunosuppressed with HIV disease). (medscape.com)
  • The disease is almost universally fatal after 1 year in patients who do not receive the correct diagnosis and therapy. (medscape.com)
  • The spectrum of clinical presentations included sudden unexpected death in children before the age of 2 years, mitochondrial disease leading to death in infants aged between 1 month and 2 years, sudden cardiac arrest following the ingestion of small amounts of alcohol in teenagers, and adults reporting acute sensitivity to alcohol. (nature.com)
  • Prior allogeneic hematopoietic stem cell transplant (HSCT) or donor lymphocyte infusion within 6 months prior to enrollment, current acute graft versus host disease grade 2-4 by Glucksberg criteria or severity B-D by by International Bone Marrow Transplant Registry (IBMTR) index or history of severe (grade 3-4) acute graft versus host disease. (moffitt.org)
  • Using an immunofluorescent technique, we found the patient's serum to have antibodies to cerebellar Purkinje cells. (jamanetwork.com)
  • CONCLUSIONS: The investigated EOA phenotypes revealed predominantly cerebellar abnormalities, with thalamo-cortical abnormalities in the mixed phenotypes, suggesting anatomical network involvement in EOA pathogenesis. (lu.se)
  • Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease (AD), with an overall prevalence of 300 per 100,000 [ 1 ] that rises from 41 in the 40-49 years' age range to 1903 in people older than age of 80 years [ 2 ]. (hindawi.com)
  • Despite evidence of the functional localization about different aspects of locomotion in the cerebellar cortex, not much is known about the plasticity mechanisms that drive the timing and motor learning in locomotion. (noldus.com)
  • Our goal was to study the role of specific mutations of plasticity in the cerebellar microcircuit. (noldus.com)
  • Cerebellar imaging abnormalities were observed in 73-86% (cohort and in silico respectively) of EOA-genes independently of phenotypic comorbidity. (lu.se)
  • The clinical picture ranges from focal bone lesions to systemic disease with life threatening visceral involvement. (bmj.com)
  • In 1991 neurological examination showed cerebellar ataxia and bilateral Babinski's signs. (bmj.com)
  • On investigations, magnetic resonance imaging brain showed bilateral cerebellar hemangioblastomas and a tiny spinal hemangioblastoma. (ijhnp.org)
  • Complete excision of bilateral cerebellar hemangioblastomas was performed. (ijhnp.org)
  • Leptospirosis is a zoonotic disease with a worldwide prevalance and protean clinical manifestations. (biomedcentral.com)
  • The clinical manifestations of the disease are believed to be caused by infiltration of the various body tissues by T whippelii . (medscape.com)
  • Don't fight Myoclonus cerebellar ataxia deafness alone. (rareguru.com)
  • Memory impairment in Parkinson's disease: The retrieval versus associative deficit hypothesis revisited and reconciled. (mpg.de)
  • Mild cognitive impairment disrupts attention network connectivity in Parkinson's disease: A combined multimodal MRI and meta-analytical study. (mpg.de)
  • As a result of dependence upon higher brain centers, certain lesions or diseases of the brain (eg, stroke, cancer, dementia) can result in a loss of voluntary control of the normal micturition reflex as well as symptoms such as urinary urgency. (medscape.com)
  • In 1889, Charcot, in his Clinical Lectures on Diseases of the Nervous System, attributed some rapid oscillatory tremors to mercury exposure. (medscape.com)
  • Cardinal motor features of Parkinson's disease (PD) include bradykinesia, rest tremor, and rigidity, which appear in the early stages of the disease and largely depend on dopaminergic nigrostriatal denervation. (hindawi.com)
  • The role of pyrophosphatase 2 (PPA2) in mitochondrial disease has recently emerged with the discovery of biallelic PPA2 variants that cause a partial loss of gene function (hypomorphs) within families affected by recurrent sudden cardiac death in siblings. (nature.com)
  • Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. (nih.gov)
  • Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. (nih.gov)
  • The list of chemicals that have the potential for use as a terrorist weapon is extensive, and clinical presentation of poisoning from chemicals can be similar to that of common diseases (e.g., gastroenteritis). (cdc.gov)
  • Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors , Journal of Neuroscience , 36(48) ,12129-12143. (noldus.com)
  • The glossary of the main motor and nonmotor symptoms and signs in Parkinson's disease. (hindawi.com)
  • Pharmacological therapy is based on levodopa and dopamine agonists and is very successful in the early stages of the disease, when dopaminergic symptoms and signs are predominant and long term motor complications still have not developed, but other treatment strategies are almost invariably necessary as time passes [ 3 ]. (hindawi.com)
  • Mitochondrial biology, stress signaling and aging-related degenerative diseases. (upstate.edu)
  • As it is a rare disease, specialist input is often required if the diagnosis remains elusive after initial investigations. (bmj.com)
  • In 2012, a study in mice provided direct evidence that subtle disruptions in cerebellar architecture can have pronounced effects on behaviors typically associated with autistic-like behavior. (wikipedia.org)
  • Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. (nature.com)
  • The disease is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. (lu.se)
  • Radiation therapy for the lymphoma halted the progression of her neurological disease. (jamanetwork.com)
  • As such, under the older guidelines, one tumor entity could develop into another tumor entity with a different grade over the course of disease progression. (medscape.com)
  • Bridging therapy: For participants who are at high risk to experience disease progression during the manufacture of JNJ-90009530 drug product and before lymphodepletion, a bridging therapy is allowed at the investigator's discretion and Sponsor's approval. (who.int)
  • 11 cats that did not have any indication of cerebellar deficits before surgery developed deficits post-surgery. (wikipedia.org)
  • Differential effects of deep brain stimulation and levodopa treatment on brain activity change in Parkinson's disease. (mpg.de)
  • Brain connectivity changes when comparing effects of subthalamic deep brain stimulation with levodopa treatment in Parkinson's disease. (mpg.de)
  • Brain connectivity change with deep brain stimulation and levodopa treatment in Parkinson's disease. (mpg.de)
  • Erdheim-Chester disease is a rare, non-Langerhans form of systemic histiocytosis of unknown aetiology. (bmj.com)
  • [ 14 ] In short, although Whipple disease represents a systemic condition, only a few organ systems of the body are affected overtly. (medscape.com)
  • They are genetically considered carriers of the disease (heterozygotes). (genomia.cz)