Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. We now report the first Korean familial case of SCA8 confirmed by genetic study.
Adult ; Blepharospasm ; Cerebellar Ataxia ; Dysarthria ; Gait Ataxia ; Humans ; Spinocerebellar Ataxias*

We experienced two suspected cases of hereditary cerebellar ataxia of ten years and right years aged boys who brothers. The patients manifested progressive wide base ataxic gait, incordination, intention tremor, impaired balance and dysarthria. A bries review of related literature is also presented.
Cerebellar Ataxia* ; Dysarthria ; Gait ; Humans ; Siblings* ; Tremor

Unsteadiness that people may continuously experience in everyday life is closely related to unilateral vestibulopathy. In human bipedal gait related to locomotion, supra-spinal control is responsible for gait rhythm. The vestibular system is involved in stable gait directly by adjusting the tension of the antigravity muscles and indirectly by producing information related to a change in the center of gravity according to the angular velocity and position of the head; thus, vestibular disorder gives rise to vestibular ataxia. Vestibular ataxia arises from vestibulo-spinal reflex impairment that changes the movement of the center of gravity in gait initiation, step length, stance width, the timing of ground reaction force, and pre-swing. In this way, information from studies related to locomotion is very important in vestibular rehabilitation.
Ataxia ; Gait ; Gravitation ; Humans ; Locomotion ; Muscles ; Reflex

Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the tendon reflexes. We have experienced a case of early onset cerebellar ataxia with retained tendon reflexes which was diagnosed by clinical features, eletrophysiologic studies, and MRI scan. This 8 year-old male patient had suffered from gait ataxia with delayed growth and development since 3 years of age. A brief review of the related literatures was also made.
Ataxia ; Cerebellar Ataxia ; Child ; Friedreich Ataxia ; Gait Ataxia ; Growth and Development ; Humans ; Magnetic Resonance Imaging ; Male ; Reflex, Stretch* ; Spinocerebellar Degenerations* ; Tendons*

Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the tendon reflexes. We have experienced a case of early onset cerebellar ataxia with retained tendon reflexes which was diagnosed by clinical features, eletrophysiologic studies, and MRI scan. This 8 year-old male patient had suffered from gait ataxia with delayed growth and development since 3 years of age. A brief review of the related literatures was also made.
Ataxia ; Cerebellar Ataxia ; Child ; Friedreich Ataxia ; Gait Ataxia ; Growth and Development ; Humans ; Magnetic Resonance Imaging ; Male ; Reflex, Stretch* ; Spinocerebellar Degenerations* ; Tendons*

The staged decompression(posterior and anterior) of foramen magnum was performed in the patient with Chiari I malformation associated with basilar invagination. Three years prior to admission, the patient was admitted due to ataxia and dysmetria. After the posterior decompression of foramen magnum, the patient's cerebellar sign improved significantly. But spastic gait disturbace was noted two years later. We performed a transoral anterior decompression to relieve brain stem compression, and an occipitocervical fusion with contoured rod to prevent possible instability. Following the operation, the spasticity improved. The authors believe this sets the successful staged decompression of Chiari I malformation associated with basilar invagination.
Ataxia ; Brain Stem ; Cerebellar Ataxia ; Decompression* ; Foramen Magnum ; Gait Disorders, Neurologic ; Humans ; Muscle Spasticity

Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with recurrent episodes of vertigo, gait ataxia and interictal downbeat nystagmus, which had developed about 16 years before. The chromosomal analysis revealed a translocation between chromosome 7 and chromosome 19 (t(7;19)). The break point in chromosome 19 was the P13 locus of the CACNA1A gene.
Ataxia* ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 7 ; Gait Ataxia ; Humans ; Vertigo

BACKGROUND & PURPOSE: Of thalamic stroke syndrome, according to previous reports, the syndrome of hemiataxia and hemisensory loss (thalamic ataxia syndrome) is known to have localizing value confined to the lesion of posterolateral thalamus. And ataxia in thalamic ataxia syndrome is due to interruption of cerebellar outflow pathways. We observed the clinical characteristics of cerebellar manifestations in patients with thalamic ataxia syndrome to clarify intrathalamic cerebellar pathways because it is known that parts of cerebellar efferent fibers do not pass through the thalamus. METHODS: Ten patients with ataxia (5 men, 5 women ; mean age 64), out of 47 thalamic stroke patients admitted to Kyung Hee University Hospital from Jan. 1994 to May. 1995, were selected. The localization of the lesion was based on CT or MR imaging and ataxia was characterized in view of cerebellar functions - coordination of movement, regulation of equilibrium and muscle tone. RESULTS: Out of 10 patients, 4 patients were thalamic hematoma, 4 patients thalamic hematoma with intraventricular hemorrhage, 2 patients thalamic infarction. Four patients were hemiataxia-hemiparesis-hemisensory loss, 4 patients hemiataxia-hemisensory loss, 2 patients hemiataxia-hemiparesis. Posterolateral thalamus was involved in 4 patients, dorsal thalamus in 3 patients, posterolateral and dorsal thalamus in 3 patients. All patients had dysmetria, dysdiadochokinesia, kinetic tremor. Two patient has gait ataxia. Speech and ocular motility disturbances were not noted. CONCLUSION: Thalamic ataxia syndrome appeared in the lesion of posterolateral and dorsal thalamus. Common cerebellar manifestations symptoms of incoordination.
Ataxia* ; Cerebellar Ataxia ; Female ; Gait Ataxia ; Hematoma ; Hemorrhage ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male ; Stroke* ; Thalamus ; Tremor

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. There are more than 35 different types of spinocerebellar ataxias, each caused by a different genetic mutation. Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. The age at onset varies from 3 to 79 years (mean 33). Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. Of late, other clinical manifestations of SCA2 are the cognitive dysfunctions, which include frontal executive impairment, verbal short-term memory deficits as well as reduction of attention and concentration. We report a 56-year old woman identified as spinocerebellar ataxia type 2 (SCA2) with only clinical feature of memory impairment.
Ataxia ; Cerebellar Ataxia ; Chorea ; Dysarthria ; Eye Movements ; Female ; Gait ; Gait Ataxia ; Hand ; Humans ; Memory* ; Memory, Short-Term ; Middle Aged ; Ophthalmoplegia ; Saccades ; Spinocerebellar Ataxias*

Olivopontocerebellar atrophy (OPCA) is a form of degenerative disease associated with neuronal degeneration in the cerebellar cortex, pons, and inferior olives. The authors have reviewed 38 cases, clinically diagnosed as OPCA, admitted in department of neurology, Seoul National University Hospital From January, 1985 to August, 1989. Seven cases of familial and 31 cases of sporadic forms have been gathered. Gait ataxia and dizziness are the most frequent initial manifestations and the cerebellar ataxia and pyramidal tract signs are frequent neurologic findings in both familial and sporadic forms. Age of onset is earlier in the familial form (mean 31.4y) than in the sporadic form (mean 47.5y). The duration of the disease is longer in the former(6.8y) than in the latter (2.9y). Abnormal ocular movement and nystagmus are more frequent in the familial form, while autonomic changes and parkinsonian features in the sporadic form.
Age of Onset ; Cerebellar Ataxia ; Cerebellar Cortex ; Dizziness ; Gait Ataxia ; Neurologic Manifestations ; Neurology ; Neurons ; Olea ; Olivopontocerebellar Atrophies* ; Pons ; Pyramidal Tracts ; Seoul