A Clinical Study of a Degenerative Disorder with Convulsion, Ataxia and Choreic Movements
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概要
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A 40 years old man with tonic clonic seizures, ataxia and involuntary movements was investigated clinically. Computed tomography showed diffuse brain atrophy and CSF examination revealed a low content of GABA. The latter is supported by the evidence of a low activity of GAD in the brain of 3 autopsied cases suffered from the similar disease, which was investigated by Dr. I. Kanazawa. Abnormal brain stem function was revealed by REM stage in sleep EEG and auditory evoked potential.<BR>This case was diagnosed as a peculiar degenerative disease-dentatorubropallidoluysian atrophy (DRPLA). It is emphasized that the case suffered from this disease would be found clinically by co-existence of epileptic seizures and ataxia or choreic movements. Familial outbreak of the patient with such symptoms, even if it was recessive or dominant, would have the confidence to diagnose the case as this peculiar disease.
- 一般社団法人 日本てんかん学会の論文
一般社団法人 日本てんかん学会 | 論文
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