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)
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)
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.
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
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.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
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 group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
Genes that influence the PHENOTYPE only in the homozygous state.
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)
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
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)
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
The output neurons of the cerebellar cortex.
A characteristic symptom complex.
A sedative and mild hypnotic with potentially toxic effects.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Alterations or deviations from normal shape or size which result in a disfigurement of the foot.
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
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.
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
Simple protein, one of the prolamines, derived from the gluten of wheat, rye, etc. May be separated into 4 discrete electrophoretic fractions. It is the toxic factor associated with CELIAC DISEASE.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
A pyridoxal-phosphate protein that catalyzes the alpha-decarboxylation of L-glutamic acid to form gamma-aminobutyric acid and carbon dioxide. The enzyme is found in bacteria and in invertebrate and vertebrate nervous systems. It is the rate-limiting enzyme in determining GAMMA-AMINOBUTYRIC ACID levels in normal nervous tissues. The brain enzyme also acts on L-cysteate, L-cysteine sulfinate, and L-aspartate. EC
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.
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)
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (1/449)

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.  (+info)

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (2/449)

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.  (+info)

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (3/449)

X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome.  (+info)

Acute cerebellar ataxia with human parvovirus B19 infection. (4/449)

A 2 year old boy developed acute cerebellar ataxia in association with erythema infectiosum. During the disease, genomic DNA and antibodies against human parvovirus B19 were detected in serum but not in cerebrospinal fluid. Parvovirus B19 associated acute cerebellar ataxia might occur due to transient vascular reaction in the cerebellum during infection.  (+info)

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. (5/449)

The SCA7 mutation has been found in 54 patients and 7 at-risk subjects from 17 families who have autosomal dominant cerebellar ataxia (ADCA) II with progressive pigmentary maculopathy. In one isolated case, haplotype reconstruction through three generations confirmed a de novo mutation owing to paternal meiotic instability. Different disease-associated haplotypes segregated among the SCA7-positive kindreds, which indicated a multiple origin of the mutation. One family with the clinical phenotype of ADCA type II did not have the CAG expansion that indicated locus heterogeneity. The distribution of the repeat size in 944 independent normal chromosomes from controls, unaffected at-risk subjects, and one affected individual fell into two ranges. The majority of the alleles were in the first range of 7-19 CAG repeats. A second range could be identified with 28-35 repeats, and we provide evidence that these repeats represent intermediate alleles that are prone to further expansion. The repeat size of the pathological allele, the widest reported for all CAG-repeat disorders, ranged from 37 to approximately 220. The repeat size showed significant negative correlation with both age at onset and age at death. Analysis of the clinical features in the patients with SCA7 confirmed that the most frequently associated features are pigmentary maculopathy, pyramidal tract involvement, and slow saccades. The subjects with <49 repeats tended to have a less complicated neurological phenotype and a longer disease duration, whereas the converse applied to subjects with >/=49 repeats. The degree of instability during meiotic transmission was greater than in all other CAG-repeat disorders and was particularly striking in paternal transmission, in which a median increase in repeat size of 6 and an interquartile range of 12 were observed, versus a median increase of 3 and interquartile range of 3.5 in maternal transmission.  (+info)

Decreased cerebellar blood flow in postinfectious acute cerebellar ataxia. (6/449)

OBJECTIVE: The aim of the present study was to evaluate the regional cerebral blood flow (rCBF) in patients with postinfectious acute cerebellar ataxia using single photon emission computed tomography (SPECT). METHODS: Five children with postinfectious acute cerebellar ataxia and five control subjects were examined. The distribution of rCBF was measured by SPECT imaging after intravenous administration of 123I-IMP (111 MBq). The rCBF ratio-defined as the ratio of rCBF in the region of interest (ROI) to that in the occipital cortex-was calculated for each cortical and subcortical ROI. The mean rCBF ratio of each region was then compared between the ataxic and control subjects. These patients and all control subjects were also evaluated using MRI. RESULTS: The rCBF ratio was significantly lower in the cerebellum of the ataxic patients than in the cerebellum of the control subjects (p<0.05). No abnormal cerebellar morphology and no abnormal signal intensities were found on MRI. CONCLUSION: 123I-IMP SPECT clearly demonstrated the decreased rCBF in the cerebellum of all patients with postinfectious acute cerebellar ataxia.  (+info)

Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family. (7/449)

OBJECTIVE: To investigate the gene mutation and the ratio of the spinocerebellar ataxia type 1 (SCA1) in Chinese patients with autosomal dominant spinocerebellar ataxia (ADSCA). METHOD: The family material and DNA samples were collected from thirteen families with ADSCA. To determine the characteristics of the CAG trinucleotide repeats in SCA1 gene, the PCR products of the Rep1 and Rep2 primers were analyzed, and the bands with CAG repeat expansion were cloned by PCR2. 1 vector and sequenced. RESULTS: One family was found to have an expanded CAG repeat in the 13 families with ADSCA. The clinically affected individual was heterozygous with one disease allele being 55 CAG repeats, whereas the mean size of the CAG repeats on 104 chromosomes generated from unrelated control Chinese individuals is 29.3 (ranging from 18 to 34). CONCLUSIONS: The frequency of the SCA1 mutation is about 7% in the 13 Chinese families with ADSCA, suggesting that this type of genetic defect is not the main cause involved in the pathogenesis of ADSCA in China. Since the mutation has also been found in Caucasian, Japanese, Malaysian, and Bangladeshi kindreds, it is suggested that this genetic defect may well have multiple origins in different ethnic groups.  (+info)

Comparative analysis of gait in Parkinson's disease, cerebellar ataxia and subcortical arteriosclerotic encephalopathy. (8/449)

Quantitative gait analysis has been used to elucidate characteristic features of neurological gait disturbances. Although a number of studies compared single patient groups with controls, there are only a few studies comparing gait parameters between patients with different neurological disorders affecting gait. In the present study, gait parameters were compared between control subjects, patients with parkinsonian gait due to idiopathic Parkinson's disease, subjects suffering from cerebellar ataxia and patients with gait disturbance due to subcortical arteriosclerotic encephalopathy. In addition to recording of baseline parameters during preferred walking velocity, subjects were required to vary velocity from very slow to very fast. Values of velocity and stride length from each subject were then used for linear regression analysis. Whereas all patient groups showed slower walking velocity and reduced step length compared with healthy controls when assessed during preferred walking, patients with ataxia and subcortical arteriosclerotic encephalopathy had, in addition, increased variability of amplitude and timing of steps. Regression analysis showed that with changing velocity, subjects with Parkinson's disease changed their stride length in the same proportion as that measured in controls. In contrast, patients with ataxia and subcortical arteriosclerotic encephalopathy had a disproportionate contribution of stride length when velocity was increased. Whereas the findings in patients with Parkinson's disease can be explained as a reduction of force gain, the observations for patients with ataxia and subcortical arteriosclerotic encephalopathy reflect an altered spatiotemporal gait strategy in order to compensate for instability. The similarity of gait disturbance in subcortical arteriosclerotic encephalopathy and cerebellar ataxia suggests common mechanisms.  (+info)

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.

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.

Spinocerebellar degenerations (SCDs) are a group of genetic disorders that primarily affect the cerebellum, the part of the brain responsible for coordinating muscle movements, and the spinal cord. These conditions are characterized by progressive degeneration or loss of nerve cells in the cerebellum and/or spinal cord, leading to various neurological symptoms.

SCDs are often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene from either parent is enough to cause the disorder. The most common type of SCD is spinocerebellar ataxia (SCA), which includes several subtypes (SCA1, SCA2, SCA3, etc.) differentiated by their genetic causes and specific clinical features.

Symptoms of spinocerebellar degenerations may include:

1. Progressive ataxia (loss of coordination and balance)
2. Dysarthria (speech difficulty)
3. Nystagmus (involuntary eye movements)
4. Oculomotor abnormalities (problems with eye movement control)
5. Tremors or other involuntary muscle movements
6. Muscle weakness and spasticity
7. Sensory disturbances, such as numbness or tingling sensations
8. Dysphagia (difficulty swallowing)
9. Cognitive impairment in some cases

The age of onset, severity, and progression of symptoms can vary significantly among different SCD subtypes and individuals. Currently, there is no cure for spinocerebellar degenerations, but various supportive treatments and therapies can help manage symptoms and improve quality of life.

Friedreich Ataxia is a genetic disorder that affects the nervous system and causes issues with movement. It is characterized by progressive damage to the nerves (neurons) in the spinal cord and peripheral nerves, which can lead to problems with muscle coordination, gait, speech, and hearing. The condition is also associated with heart disorders, diabetes, and vision impairment.

Friedreich Ataxia is caused by a mutation in the FXN gene, which provides instructions for making a protein called frataxin. This protein plays a role in the production of energy within cells, particularly in the mitochondria. The mutation in the FXN gene leads to reduced levels of frataxin, which can cause nerve damage and other symptoms associated with Friedreich Ataxia.

The condition typically begins in childhood or early adulthood and progresses over time, often leading to significant disability. There is currently no cure for Friedreich Ataxia, but treatments are available to help manage the 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.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

The cerebellum is a part of the brain that lies behind the brainstem and is involved in the regulation of motor movements, balance, and coordination. It contains two hemispheres and a central portion called the vermis. The cerebellum receives input from sensory systems and other areas of the brain and spinal cord and sends output to motor areas of the brain. Damage to the cerebellum can result in problems with movement, balance, and coordination.

Olivopontocerebellar atrophies (OPCA) are a group of rare, progressive neurodegenerative disorders that primarily affect the cerebellum, olive (inferior olivary nucleus), and pons in the brainstem. The condition is characterized by degeneration and atrophy of these specific areas, leading to various neurological symptoms.

The term "olivopontocerebellar atrophies" encompasses several subtypes, including:

1. Hereditary spastic paraplegia with cerebellar ataxia (SPG/ATA) - Autosomal dominant or recessive inheritance pattern.
2. Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) - Autosomal dominant inheritance pattern.
3. Idiopathic OPCA - No known genetic cause, possibly related to environmental factors or spontaneous mutations.

Symptoms of olivopontocerebellar atrophies may include:

* Progressive cerebellar ataxia (gait and limb incoordination)
* Dysarthria (slurred speech)
* Oculomotor abnormalities (nystagmus, gaze palsy)
* Spasticity (stiffness and rigidity of muscles)
* Dysphagia (difficulty swallowing)
* Tremors or dystonia (involuntary muscle contractions)

Diagnosis typically involves a combination of clinical examination, neuroimaging studies (MRI), genetic testing, and exclusion of other possible causes. Currently, there is no cure for olivopontocerebellar atrophies, but supportive care can help manage symptoms and improve quality of life.

Stiff-Person Syndrome (SPS) is a rare neurological disorder characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as touch, sound, and emotional distress, which can trigger muscle spasms. The symptoms can significantly affect a person's ability to perform daily activities and can lead to frequent falls and injuries. SPS is often associated with antibodies against glutamic acid decarboxylase (GAD), an enzyme involved in the production of a neurotransmitter called gamma-aminobutyric acid (GABA) that helps regulate muscle movement. The exact cause of SPS remains unknown, but it is thought to involve both autoimmune and genetic factors.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

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.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

An abnormal reflex in a medical context refers to an involuntary and exaggerated response or lack of response to a stimulus that is not expected in the normal physiological range. These responses can be indicative of underlying neurological disorders or damage to the nervous system. Examples include hyperreflexia (overactive reflexes) and hyporeflexia (underactive reflexes). The assessment of reflexes is an important part of a physical examination, as it can provide valuable information about the functioning of the nervous system.

Apraxia is a motor disorder characterized by the inability to perform learned, purposeful movements despite having the physical ability and mental understanding to do so. It is not caused by weakness, paralysis, or sensory loss, and it is not due to poor comprehension or motivation.

There are several types of apraxias, including:

1. Limb-Kinematic Apraxia: This type affects the ability to make precise movements with the limbs, such as using tools or performing complex gestures.
2. Ideomotor Apraxia: In this form, individuals have difficulty executing learned motor actions in response to verbal commands or visual cues, but they can still perform the same action when given the actual object to use.
3. Ideational Apraxia: This type affects the ability to sequence and coordinate multiple steps of a complex action, such as dressing oneself or making coffee.
4. Oral Apraxia: Also known as verbal apraxia, this form affects the ability to plan and execute speech movements, leading to difficulties with articulation and speech production.
5. Constructional Apraxia: This type impairs the ability to draw, copy, or construct geometric forms and shapes, often due to visuospatial processing issues.

Apraxias can result from various neurological conditions, such as stroke, brain injury, dementia, or neurodegenerative diseases like Parkinson's disease and Alzheimer's disease. Treatment typically involves rehabilitation and therapy focused on retraining the affected movements and compensating for any residual deficits.

Machado-Joseph Disease (MJD) is a genetic disorder that affects the part of the brain that controls movement. It is also known as spinocerebellar ataxia type 3 (SCA3). MJD is characterized by progressive problems with coordination, speech, and swallowing, along with muscle stiffness, tremors, and in some cases, eye movement abnormalities.

MJD is caused by a mutation in the ATXN3 gene, which results in an expanded CAG repeat sequence. This genetic defect leads to the production of an abnormal protein that accumulates in nerve cells, causing them to die. The severity and age of onset of MJD can vary widely, even within families, but symptoms typically begin between the ages of 10 and 60.

MJD is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing mutation from an affected parent. Currently, there is no cure for MJD, but treatments can help manage symptoms and improve quality of life.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Purkinje cells are a type of neuron located in the cerebellar cortex, which is the outer layer of the cerebellum, a part of the brain that plays a crucial role in motor control and coordination. These cells have large branching dendrites and receive input from many other neurons, particularly granule cells. The axons of Purkinje cells form the principal output pathway of the cerebellar cortex, synapsing with deep cerebellar nuclei. They are named after Johannes Evangelista Purkinje, a Czech physiologist who first described them in 1837.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

I apologize, but I am not able to provide a medical definition for "Bromisovalum" because it is not a recognized or validated medication or substance in the field of medicine. It is possible that there may be a spelling error or typo in the term you provided. If you have more information about what you are looking for, I will do my best to help you find the correct information.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

Pathological nystagmus is an abnormal, involuntary movement of the eyes that can occur in various directions (horizontal, vertical, or rotatory) and can be rhythmical or arrhythmic. It is typically a result of a disturbance in the vestibular system, central nervous system, or ocular motor pathways. Pathological nystagmus can cause visual symptoms such as blurred vision, difficulty with fixation, and oscillopsia (the sensation that one's surroundings are moving). The type, direction, and intensity of the nystagmus may vary depending on the underlying cause, which can include conditions such as brainstem or cerebellar lesions, multiple sclerosis, drug toxicity, inner ear disorders, and congenital abnormalities.

Foot deformities refer to abnormal changes in the structure and/or alignment of the bones, joints, muscles, ligaments, or tendons in the foot, leading to a deviation from the normal shape and function of the foot. These deformities can occur in various parts of the foot, such as the toes, arch, heel, or ankle, and can result in pain, difficulty walking, and reduced mobility. Some common examples of foot deformities include:

1. Hammertoes: A deformity where the toe bends downward at the middle joint, resembling a hammer.
2. Mallet toes: A condition where the end joint of the toe is bent downward, creating a mallet-like shape.
3. Claw toes: A combination of both hammertoes and mallet toes, causing all three joints in the toe to bend abnormally.
4. Bunions: A bony bump that forms on the inside of the foot at the base of the big toe, caused by the misalignment of the big toe joint.
5. Tailor's bunion (bunionette): A similar condition to a bunion but occurring on the outside of the foot, at the base of the little toe.
6. Flat feet (pes planus): A condition where the arch of the foot collapses, causing the entire sole of the foot to come into contact with the ground when standing or walking.
7. High arches (pes cavus): An excessively high arch that doesn't provide enough shock absorption and can lead to pain and instability.
8. Cavus foot: A condition characterized by a very high arch and tight heel cord, often leading to an imbalance in the foot structure and increased risk of ankle injuries.
9. Haglund's deformity: A bony enlargement on the back of the heel, which can cause pain and irritation when wearing shoes.
10. Charcot foot: A severe deformity that occurs due to nerve damage in the foot, leading to weakened bones, joint dislocations, and foot collapse.

Foot deformities can be congenital (present at birth) or acquired (develop later in life) due to various factors such as injury, illness, poor footwear, or abnormal biomechanics. Proper diagnosis, treatment, and management are essential for maintaining foot health and preventing further complications.

Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including Parkinsonism (such as stiffness, slowness of movement, and tremors), cerebellar ataxia (lack of muscle coordination), autonomic dysfunction (problems with the autonomic nervous system which controls involuntary actions like heart rate, blood pressure, sweating, and digestion), and pyramidal signs (abnormalities in the corticospinal tracts that control voluntary movements).

The disorder is caused by the degeneration of nerve cells in various parts of the brain and spinal cord, leading to a loss of function in these areas. The exact cause of MSA is unknown, but it is thought to involve a combination of genetic and environmental factors. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Ocular motility disorders refer to a group of conditions that affect the movement of the eyes. These disorders can result from nerve damage, muscle dysfunction, or brain injuries. They can cause abnormal eye alignment, limited range of motion, and difficulty coordinating eye movements. Common symptoms include double vision, blurry vision, strabismus (crossed eyes), nystagmus (involuntary eye movement), and difficulty tracking moving objects. Ocular motility disorders can be congenital or acquired and may require medical intervention to correct or manage the condition.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Gliadin is a protein fraction found in gluten, a complex protein that's present in certain grains such as wheat, barley, and rye. It is particularly known for its role in celiac disease, a disorder where the ingestion of gluten leads to an immune response that damages the lining of the small intestine.

Gliadin, along with another protein fraction called glutenin, makes up gluten. Gliadin is responsible for the elastic properties of dough. When water is added to flour and mixed, these proteins form a sticky network that gives dough its characteristic texture and allows it to rise and maintain its shape during baking.

In individuals with celiac disease, the immune system recognizes gliadin as a foreign invader and mounts an immune response against it. This response leads to inflammation and damage in the small intestine, preventing the absorption of nutrients from food. Over time, this can lead to various health complications if not properly managed through a gluten-free diet.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

Glutamate decarboxylase (GAD) is an enzyme that plays a crucial role in the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain. GABA is an inhibitory neurotransmitter that helps to balance the excitatory effects of glutamate, another neurotransmitter.

Glutamate decarboxylase catalyzes the conversion of glutamate to GABA by removing a carboxyl group from the glutamate molecule. This reaction occurs in two steps, with the enzyme first converting glutamate to glutamic acid semialdehyde and then converting that intermediate product to GABA.

There are two major isoforms of glutamate decarboxylase, GAD65 and GAD67, which differ in their molecular weight, subcellular localization, and function. GAD65 is primarily responsible for the synthesis of GABA in neuronal synapses, while GAD67 is responsible for the synthesis of GABA in the cell body and dendrites of neurons.

Glutamate decarboxylase is an important target for research in neurology and psychiatry because dysregulation of GABAergic neurotransmission has been implicated in a variety of neurological and psychiatric disorders, including epilepsy, anxiety, depression, and schizophrenia.

Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.

For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.

Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.

Paraneoplastic cerebellar degeneration (PCD) is a rare disorder characterized by progressive damage to the cerebellum, the part of the brain responsible for coordinating muscle movements. It is considered a paraneoplastic syndrome, which means it is caused by an abnormal immune system response to a cancerous tumor (neoplasm) located elsewhere in the body.

In PCD, antibodies produced by the immune system to fight the tumor mistakenly attack proteins in the cerebellum that are similar to those found in the tumor. This leads to inflammation and degeneration of the Purkinje cells, a type of neuron critical for maintaining balance and coordinating movements.

PCD can present with symptoms such as unsteady gait, loss of coordination, slurred speech, nystagmus (involuntary eye movement), and tremors. These symptoms often develop rapidly, over the course of days to weeks, and may progress even after the tumor has been removed or treated.

PCD is associated with several types of cancers, including small cell lung cancer, breast cancer, ovarian cancer, Hodgkin's lymphoma, and others. Early diagnosis and treatment of the underlying cancer are essential to slowing down the progression of PCD and improving outcomes.

Human chromosome pair 19 refers to a group of 19 identical chromosomes that are present in every cell of the human body, except for the sperm and egg cells which contain only 23 chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of DNA (deoxyribonucleic acid) molecules.

Each chromosome is made up of two arms, a shorter p arm and a longer q arm, separated by a centromere. Human chromosome pair 19 is an acrocentric chromosome, which means that the centromere is located very close to the end of the short arm (p arm).

Chromosome pair 19 contains approximately 58 million base pairs of DNA and encodes for around 1,400 genes. It is one of the most gene-dense chromosomes in the human genome, with many genes involved in important biological processes such as metabolism, immunity, and neurological function.

Abnormalities in chromosome pair 19 have been associated with various genetic disorders, including Sotos syndrome, which is characterized by overgrowth, developmental delay, and distinctive facial features, and Smith-Magenis syndrome, which is marked by intellectual disability, behavioral problems, and distinct physical features.

Dysarthria is a motor speech disorder that results from damage to the nervous system, particularly the brainstem or cerebellum. It affects the muscles used for speaking, causing slurred, slow, or difficult speech. The specific symptoms can vary depending on the underlying cause and the extent of nerve damage. Treatment typically involves speech therapy to improve communication abilities.

Genetic anticipation is a phenomenon observed in certain genetic disorders where the severity and/or age of onset of the disease tend to worsen in successive generations. This occurs due to an expansion of triplet repeat sequences (sequences of three consecutive DNA base pairs) in the affected gene, which can lead to an increased production of abnormal proteins associated with the disorder. The expanded repeats are more likely to be inherited when the parent who carries them is a female. Examples of genetic disorders that exhibit anticipation include Huntington's disease, myotonic dystrophy, and fragile X syndrome.

Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.

Optic atrophy can occur due to a variety of causes, such as:

* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.

The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.

There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Ophthalmoplegia is a medical term that refers to the paralysis or weakness of the eye muscles, which can result in double vision (diplopia) or difficulty moving the eyes. It can be caused by various conditions, including nerve damage, muscle disorders, or neurological diseases such as myasthenia gravis or multiple sclerosis. Ophthalmoplegia can affect one or more eye muscles and can be partial or complete. Depending on the underlying cause, ophthalmoplegia may be treatable with medications, surgery, or other interventions.

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"Orphanet: Autosomal dominant cerebellar ataxia". Retrieved 8 August 2019. "Autosomal Dominant Cerebellar Ataxia ... Cerebellar dysfunction In terms of the genetics of autosomal dominant cerebellar ataxia 11 of 18 known genes are caused by ... Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA ... Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Durr A. doi:10.1016/S1474-4422(10)70183-6 - via ...
Post-viral cerebellar ataxia also known as acute cerebellitis and acute cerebellar ataxia (ACA) is a disease characterized by ... Most symptoms of people with post-viral cerebellar ataxia deal to a large extent with the movement of the body. Some common ... Batten described in detail cases of post-infectious cerebellar ataxia in five children. The cause of the disease was unknown ... Acute cerebellar ataxia of childhood Nussinovitch, Moshe; Prais, Dario; Volovitz, Benjamin; Shapiro, Rivka; Amir, Jacob (2003 ...
... due to CWF19L1 deficiency Congenital cerebellar ataxia due to RNU12 mutation Ataxia with ... cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Ataxia- ... recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Ataxia ... Spectrin-associated autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia-epilepsy-intellectual ...
... leading to a childhood form of post viral cerebellar ataxia. It is a diagnosis of exclusion. Acute cerebellar ataxia usually ... Acute Cerebellar ataxia is a diagnosis of exclusion. Urgent CT scan is necessary to rule out cerebellar tumor or hemorrhage as ... Truncal ataxia with deterioration of gait Slurred speech and nystagmus Afebrile Possible causes of acute cerebellar ataxia ... Most commonly acute cerebellar ataxia affects children between age 2 and 7 years. Gluten ataxia Brown, Miller. "Pediatrics." ...
... "Autosomal Recessive Cerebellar Ataxias." Fracis, Palau ... ataxias with metabolic disorders ataxias with a DNA repair defect degenerative ataxias ataxia associated with other features. ... 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 ...
Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive late-onset ... "Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign". Brain: A ... "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion". Brain. 143 (2): 480-490. doi: ... largely owing to its recent description and delineation from other forms of autosomal recessive cerebellar ataxia.[citation ...
"Autosomal dominant cerebellar ataxia, deafness, and narcolepsy". 16 June 2022. "Orphanet: Autosomal dominant cerebellar ataxia ... It is a type of autosomal dominant cerebellar ataxia. Usually, people with this disorder have ataxia, mild-moderate ... "Pruebas genéticas - Ataxia cerebelar autosómica dominante, sordera y narcolepsia (Autosomal dominant cerebellar ataxia, ... autosomal dominant cerebellar ataxia, deafness and narcolepsy". Retrieved 2022-09-09. "Autosomal dominant cerebellar ...
Cerebellar ataxia. APS-1 is caused by a mutation in the AIRE gene, encoding a protein called autoimmune regulator. This is ...
The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic ... Fogel BL (September 2012). "Childhood cerebellar ataxia". Journal of Child Neurology. 27 (9): 1138-45. doi:10.1177/ ... congenital ataxia, coloboma, and hepatic fibrosis. Detection of the hypoplasia of the cerebellar vermis is achieved through a ... mild gait or hand ataxia and irregular eye movement are symptoms of the disease attributed to congential ataxia. Coloboma of ...
Nussinovitch M, Prais D, Volovitz B, Shapiro R, Amir J (September 2003). "Post-infectious acute cerebellar ataxia in children ... and acute cerebellar ataxia. About 95% of the world's population is infected with EBV. During the initial infection, the virus ... ataxia telangiectasia, the radiosensitive forms of severe combined immunodeficiency disease (SCID), the autoimmune ...
Diener, HC; Dichgans, J (1992). "Pathophysiology of Cerebellar Ataxia". Movement Disorders. 7 (2): 95-109. doi:10.1002/mds. ... Deshmukh, A; Rosenbloom, MJ; Pfefferbaum, A; Sullivan EV (2002). "Clinical signs of cerebellar dysfunction in schizophrenia, ...
... is a feature of cerebellar ataxia and may be the result of lesions to either the cerebellar hemispheres or ... Dysdiadochokinesia is also seen in Friedreich's ataxia and multiple sclerosis, as a cerebellar symptom (including ataxia, ... Diener, HC; Dichgans, J (1992). "Pathophysiology of Cerebellar Ataxia". Movement Disorders. 7 (2): 95-109. doi:10.1002/mds. ... Deshmukh, A; Rosenbloom, MJ; Pfefferbaum, A; Sullivan EV (2002). "Clinical signs of cerebellar dysfunction in schizophrenia, ...
Cerebellar ataxia: involuntary movements. Deep brain stimulation may provide relief from some symptoms of Benedikt syndrome, ... It is characterized by the presence of an oculomotor nerve (CN III) palsy and cerebellar ataxia including tremor and ... Neuroanatomical structures affected include the oculomotor nucleus, red nucleus, corticospinal tracts and superior cerebellar ... in that Benedikt's has more predominant tremor and choreoathetotic movements while Claude's is more marked by the ataxia.[ ...
Cerebellar Ataxia Rehabilitation Trialists Collaboration (2011). "Cerebellar Ataxia Rehabilitation Trial in Degenerative ... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... "spinocerebellar ataxia" at Dorland's Medical Dictionary "Ataxias and Cerebellar or Spinocerebellar Degeneration Information ...
TBX21 Ataxia with isolated vitamin E deficiency; 277460; TTPA Ataxia, cerebellar, Cayman type; 601238; ATCAY Ataxia, early- ... RET Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; 613227; CA8 Cerebellar ataxia; 604290; ... COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; ... ITPR1 Spinocerebellar ataxia 17; 607136; TBP Spinocerebellar ataxia 28; 610246; AFG3L2 Spinocerebellar ataxia 31; 117210; BEAN ...
"Cerbellar Signs including Cerebellar Ataxia". Retrieved 2012-01-04. (Articles with short description, Short description is ... Scanning speech may be accompanied by other symptoms of cerebellar damage, such as gait, truncal and limb ataxia, intention ...
Casper, M.A., Rapheal,L.J., Harris, K.S., & Geibel, J.M. (2007). Speech prosody in cerebellar ataxia. "International Journal of ...
Additional findings include cerebellar ataxia. Inheritance pattern varies among families. It has been described in 11 Omani ...
No curative medication has been approved for the treatment of inherited cerebellar ataxias, including Ataxia-Telangiectasia. N- ... "Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series". Cerebellum & Ataxias. 3: 8. doi: ... N-Acetyl-Leucine has also been granted Orphan Drug Designations in the US and EU for related inherited cerebellar ataxias, such ... October 2013). "Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series". Journal of Neurology. 260 (10 ...
It has also been investigated as a treatment for cerebellar ataxia. Ogawa, M (2004). "Pharmacological treatments of cerebellar ... ataxia". Cerebellum. London). 3 (2): 107-11. doi:10.1080/147342204100032331. PMID 15233578. S2CID 21026074. v t e (Articles ...
SYNE1-Related Autosomal Recessive Cerebellar Ataxia. PMID 20301553. Retrieved 10 May 2016. {{cite book}}: ,journal= ignored ( ...
Known for Sanger-Brown cerebellar ataxia. He described it in 1892, it is one of the unusual types collected by Pierre Marie in ...
This causes a reduction in cerebellar ataxia. Another neurotransmitter targeted by drugs that has been found to alleviate ... The most common site for cerebellar lesions that lead to intention tremors has been reported to be the superior cerebellar ... was completed at the Sapienza University of Rome to evaluate its effectiveness of treating cerebellar ataxia and kinetic tremor ... "Efficacy of Riluzole in Hereditary Cerebellar Ataxia" at Orrell, Richard W (2005). "Multiple Sclerosis: The ...
... is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and ... "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". Retrieved 2019-12-23. Beighton, Greta (2012-12-06 ... cerebellar ataxia and intellectual disability. Some of the members did not have the full syndrome. It was first described in ...
Nussinovitch M, Prais D, Volovitz B, Shapiro R, Amir J (September 2003). "Post-infectious acute cerebellar ataxia in children ... cerebellar ataxia, particularly childhood cases of this disorder, and two autoimmune diseases, multiple sclerosis and systemic ...
Recently, anti-GlyR antibodies have also been reported in patients with cerebellar ataxia and anti-GAD antibodies and patients ... All patients with anti-mGluR1 antibodies develop cerebellar ataxia of subacute onset, and some may present with additional ... The main neurological syndromes associated with anti-GAD antibodies include stiff-person syndrome, cerebellar ataxia, epilepsy ... "Cerebellar Ataxia and Glutamic Acid Decarboxylase Antibodies". JAMA Neurology. 71 (8): 1009-1016. doi:10.1001/jamaneurol. ...
The virus is also associated with the childhood disorders of Alice in Wonderland syndrome and acute cerebellar ataxia and, by ... Nussinovitch M, Prais D, Volovitz B, Shapiro R, Amir J (September 2003). "Post-infectious acute cerebellar ataxia in children ...
... , also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is ... Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of syndrome. The iris abnormality is ... 1964 - GILLESPIE FD first described in two siblings with aniridia, cerebellar ataxia, and mental retardation. 1971 - Sarsfield ... Sarsfield, JK (Aug 1971). "The syndrome of congenital cerebellar ataxia, aniridia and mental retardation". Developmental ...
Nussinovitch M, Prais D, Volovitz B, Shapiro R, Amir J (September 2003). "Post-infectious acute cerebellar ataxia in children ... and systemic lupus erythematosis and the childhood disorders of Alice in Wonderland Syndrome and acute cerebellar ataxia. ...
Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". ... Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical ... of all ataxias. Primary auto-immune ataxias (PACA) lack diagnostic biomarkers. Cerebellar ataxias can be classified as sporadic ... Drugs have only been studied in degenerative ataxia, and the level of evidence is low." Some effects of cerebellar ataxia may ...
Acute cerebellar ataxia is sudden inability to coordinate muscle movement due to disease or injury to the cerebellum. This is ... Acute cerebellar ataxia is sudden inability to coordinate muscle movement due to disease or injury to the cerebellum. This is ... Cerebellar ataxia; Ataxia - acute cerebellar; Cerebellitis; Post-varicella acute cerebellar ataxia; PVACA ... Acute cerebellar ataxia is sudden inability to coordinate muscle movement due to disease or injury to the cerebellum. This is ...
Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. *Mark. Cundari, Maurizio LU ; Vestberg, ... We discuss how cerebellar computations contribute to performance on cognitive and motor tasks and how cerebellar signals are ... We discuss how cerebellar computations contribute to performance on cognitive and motor tasks and how cerebellar signals are ... as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar ...
Cerebellar Abiotrophy (CA) in Kelpies causes ataxia and other difficulties with movement. There are three or more genetic ... CEREBELLAR ABIOTROPHY ATAXIA. Many MEhrlichiosis: update February 2021 - Deb Maxwell BVSc embers are aware of criticism ... CEREBELLAR ABIOTROPHY (CA) - KELPIE ATAXIAS. Update July 2020 by Deb Maxwell BVSc ... Genes for cerebellar abiotrophy (CA) have probably been in the Kelpie population for many generations, but were first brought ...
Cerebellar ataxia. 3 (9). 2 (6). 1 (5)5. Limb atrophy. 0. 17 (53). 10 (45). ...
Cerebellar Ataxia. Curr Treat Options Neurol. 2000 May. 2(3):215-224. [QxMD MEDLINE Link]. ... Classic Friedreich ataxia appears to be caused by a single genetic defect and does not appear to be associated with measurable ... Postinfectious cerebellar dysfunction usually presents as a single episode that clears in weeks or months and does not recur. ... Intermittent or Episodic Ataxia in Childhood and Adolescence. This category is characterized by the sudden, almost abrupt, ...
"The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias," a recent publication on a study led ... The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. 2024 Jan 2. doi: 10.1007/ ... Researchers have been looking for a way to better measure cognitive skills in people with Ataxia. The Cerebellar Cognitive ... A lay summary of: The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias ...
Fellowship, 2012, general neurology and cerebellar ataxia, Federal University of São Paulo, Brazil ...
In addition to parkinsonlike symptoms, patients often exhibit cerebellar ataxia and autonomic dysfunction. Clinical ...
In addition to parkinsonlike symptoms, patients often exhibit cerebellar ataxia and autonomic dysfunction. Clinical ...
Peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, and ichthyosis are the major clinical components. The ... Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Proc Natl Acad Sci U S A. 2008 Nov 18. 105(46):17712-7 ...
Encephalitis (estimated rate = 1.7/100,000): Cerebellar ataxia is most common, and is associated with a good outcome; diffuse ...
... whereas mice lacking cerebellar ankG develop progressive ataxia[21]. Therefore, the altered MBP expression and reduced Caspr ...
... cerebellar ataxia, Reye syndrome, and death.[7]. Congenital varicella syndrome, characterized by hypoplasia of an extremity, ...
Subchronic effects included temporary or permanent blindness without dilatation, incoordination, cerebellar ataxia, paresis or ...
Cerebellar dysfunction, movement disorders (ataxia and later on myoclonus) and loss of balance are the second-most common ... It is a disease of the central nervous system manifested by cerebellar ataxia, loss of coordination, shivering, tremors, ... high stepping and pelvic limb ataxia). If not destroyed, the animal develops a swaying gait, itching, anorexia and weight loss ... Creutzfeldt-Jakob disease in being of a longer duration of illness with more slowly progressive dementia and/or cerebral ataxia ...
... some hereditary spinocerebellar ataxias Hereditary ataxias Cerebellar disorders have numerous causes, including congenital ... cerebellar, and proprioceptive pathways (see also Movement and Cerebellar Disorders). Lesions in these pathways... read more ... Symptoms vary with the cause but typically include ataxia (impaired... read more , multiple sclerosis Multiple Sclerosis (MS) ... which can accompany cerebellar stroke, vermian atrophy (eg, due to alcohol abuse), ...
Boor, J.W. e Hurtig, H.I. (1997). Persistent cerebellar ataxia after exposure to toluene. Annals Neurol., 2, 440-442. Tente ...
Cerebellar Ataxia Cerebellar Ataxias (CAs) are a group of disorders in which there is a degeneration in the movement center of ... Cerebellar Ataxia Cerebellar Ataxias (CAs) are a group of disorders in which there is a degeneration in the movement center of ... CNS Atrophy with Cerebellar Ataxia (Discovered in the Belgian Shepherd) CNS Atrophy with Cerebellar Ataxia (CACA) is a ... Progressive Early-Onset Cerebellar Ataxia Progressive early-onset cerebellar ataxia is a disorder of the nervous system that ...
Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac disease. Souayah, N., ...
5) cerebellar ataxia So far 2 types have been described, Type I without and Type II with infantile hypotonia. ...
Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications. Manto, ... Does the cerebellum shape the spatiotemporal organization of muscle patterns? Insights from subjects with cerebellar ataxias. ... The Cerebellar Cognitive Affective/Schmahmann Syndrome: a Task Force Paper. Argyropoulos, Georgios P D; van Dun, Kim; Adamaszek ... Development of a Psychiatric Disorder Linked to Cerebellar Lesions. Lupo, Michela; Olivito, Giusy; Siciliano, Libera; Masciullo ...
Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor ... Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye ... Cayman type cerebellar ataxia. MedGen UID: 331319. •Concept ID: C1832585. •. Disease or Syndrome. ... Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome. MedGen UID: 318633. •Concept ID: ...
Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Cundari, M., Vestberg, S., Gustafsson, P., ... Cerebellar neurophysiology in a translational perspective: from neuronal to neurocognitive dysfunctions. Cundari, M., Rasmussen ...
Cerebellar ataxia (failure of muscular coordination). *If autonomic failure predominates, MSA is known as Shy-Drager syndrome. ... If cerebellar ataxia predominates, MSA is known as olivopontocerebellar atrophy (OPCA).. The initial symptoms of MSA are often ...
Disruption of protein geranylgeranylation in the cerebellum causes cerebellar hypoplasia and ataxia via blocking granule cell ...
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. (CANVAS) due to a biallelic expansion in RFC1. Delayed ... Cerebellar form of Creutzfeldt-Jakob disease.. Adenovirus meningoencephalitis. Imaging of Vaping-Associated Lung Disease. ...
  • Cerebellar ataxia is a form of ataxia originating in the cerebellum. (
  • Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. (
  • It is thought that the buspirone increases the serotonin levels in the cerebellum and so decreases ataxia. (
  • Cerebellum & Ataxias. (
  • Acute cerebellar ataxia is sudden inability to coordinate muscle movement due to disease or injury to the cerebellum. (
  • The specific contribution of the cerebellum to typical development may therefore involve the optimization of the structure and function of cerebro-cerebellar. (
  • The Cerebellar Cognitive Affective Syndrome/Schmahmann Syndrome (CCAS) Scale was developed to identify cognitive changes amongst people with spinocerebellar Ataxias and other conditions that impact the cerebellum. (
  • The models also displayed cerebellar ataxia, or injury to the cerebellum. (
  • Peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa , and ichthyosis are the major clinical components. (
  • Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism spectrum disorder (ASD), as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar function. (
  • However, not everyone with a spinocerebellar Ataxia shows cognitive difficulties. (
  • There were 37 controls individuals without spinocerebellar Ataxia. (
  • Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (
  • Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. (
  • The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. (
  • At least 48 STR expansions cause Mendelian human diseases, such as Huntington's disease and spinocerebellar ataxia (SCA) [ 2 ]. (
  • Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. (
  • Symptoms in cattle include nervousness, kicking, heightened sensory perception and abnormal gait (high stepping and pelvic limb ataxia). (
  • c) 4-AP in cerebellar gait ataxia: evidence comes from two observational studies. (
  • There are ongoing randomized placebo-controlled trials on EA2 with 4-AP versus acetazolamide (EAT-2-TREAT), cerebellar gait ataxia with 4-AP (FACEG), and a multinational trial on cerebellar ataxia with acetyl-DL-leucine (ALCAT). (
  • Morphological abnormalities in different cerebellar subregions produce distinct behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. (
  • Since its publication in 2018, the scale has been translated into more than 15 languages and used to test individuals with several different cerebellar conditions. (
  • Pharmacological treatment of cerebellar ataxias and cerebellar nystagmus still remains difficult. (
  • b) aminopyridines in cerebellar downbeat nystagmus (DBN): two randomized controlled trials and several observational studies demonstrate a significant improvement of the intensity of DBN, visual acuity, and postural imbalance. (
  • The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias, " a recent publication on a study led by Principal Investigators Dr. Jeremy Schmahmann and Dr. Louisa Selvadurai, marks a pivotal moment in our understanding of Ataxia's broader effects. (
  • Contact your provider if any symptoms of ataxia appear. (
  • As a person ages, determining whether changes are caused by Ataxia or unrelated causes can be difficult, especially when symptoms impact the way a person thinks and feels. (
  • Pre-symptomatic individuals have the gene that causes Ataxia, but do not yet have Ataxia symptoms. (
  • Furthermore, the more severe a symptomatic person's Ataxia symptoms were, the worse their cognitive performance tended to be. (
  • This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C. (
  • Here, we review cerebellar structural and functional differences between healthy and patients with ADHD, ASD, and SCA3, and explore how disruption of cerebellar networks affects the neurocognitive functions in these conditions. (
  • Acute cerebellar ataxia in children, particularly younger than age 3, may occur several days or weeks after an illness caused by a virus. (
  • If the acute cerebellar ataxia is due to bleeding, surgery may be needed. (
  • For many years, it was thought that postural and balance disorders in cerebellar ataxia were not treatable. (
  • However, the results of several recent studies suggest that rehabilitation can relieve postural disorders in patients with cerebellar ataxia. (
  • Cerebellar ataxia can be caused by a variety of disorders, including degenerative processes, autoimmune and paraneoplastic illness as well as by gene mutations inherited in autosomal dominant, autosomal recessive, or X-linked fashions. (
  • In rare cases, shaking in cats can be a symptom of neurological disorders, such as cerebellar ataxia or epilepsy. (
  • Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. (
  • Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). (
  • To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. (
  • In spinocerebellar Ataxias, the changes that occur to the brain may lead to changes in these cognitive skills. (
  • Behavioral intervention is successful when it involves engaging knowledge of the interests and general backgrounds of individuals with cerebellar ataxia. (
  • We discuss how cerebellar computations contribute to performance on cognitive and motor tasks and how cerebellar signals are interfaced with signals from other brain regions during normal and dysfunctional behavior. (
  • Historically, the effects of Ataxia on cognitive abilities are understudied and can be overlooked. (
  • Researchers have been looking for a way to better measure cognitive skills in people with Ataxia. (
  • These findings highlight that cognitive changes are quite common in spinocerebellar Ataxias. (
  • There is now moderate level evidence that rehabilitation is efficient to improve postural capacities of patients with cerebellar ataxia - particularly in patients with degenerative ataxia or multiple sclerosis. (
  • Drugs have only been studied in degenerative ataxia, and the level of evidence is low. (
  • The global or cerebellar deletion of the Bmal1 gene, in particular, can result in severe difficulties in sociability, social communication, and excessive repetitive behaviors. (
  • Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. (
  • Ataxia means loss of muscle coordination, especially of the hands and legs. (
  • Cerebellar deficits can be estimated using clinical rating scales, such as SODA for ocular deficits. (
  • It usually becomes evident later in a pup's life and gets progressively worse, unlike early-onset ataxia, which is typically apparent at six weeks of age and does not get worse with age. (
  • There has been growing evidence that individuals with spinocerebellar Ataxias perform more poorly on the CCAS Scale compared to unaffected individuals. (
  • Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. (
  • In this review, we highlight the treatments for cerebellar ataxia in a systematic w. (
  • Some effects of cerebellar ataxia may be reduced to varying degrees by means of Frenkel exercises. (
  • Among those responding, dogs were provided that had a form of ataxia differing from that previously studied. (
  • Cerebellar ataxia caused by a recent viral infection may not need treatment. (
  • Ataxia may affect movement of the middle part of the body from the neck to the hip area (the trunk) or the arms and legs (limbs). (
  • It is in this context that we celebrate a significant achievement in Ataxia research. (
  • Cerebellar Hemorrhages In Cerebral Peduncles Or On Cerebellar Can Result In Ataxia Or Nistagmus, But Also Cerebellar Mutism Was Described. (
  • Cerebellar Hemorrhage Can Also Result In IV'th Ventricle Obstruction And Hydrocephalus. (
  • When a person with ataxia of the arms reaches for an object, the hand may sway back and forth. (