Abstract
A family with recessively inherited ataxia and dystonic episodes that responded to antiepileptic medication is described. The onset was in the first decade. Clinically the patients have gait and limb ataxia, nystagmus and brisk reflexes, with abnormal visual, auditory and somatosensory evoked responses, but normal nerve conduction velocities and electromyography. Their intelligence is borderline. CT and MRI scans show severe atrophy in the vermis and basis pontis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 591-594 |
| Number of pages | 4 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 49 |
| Issue number | 5 |
| DOIs | |
| State | Published - 1986 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Public Health, Environmental and Occupational Health
- Psychiatry and Mental health
- Neuroscience(all)
- Neuropsychology and Physiological Psychology