A recessively inherited ataxia with episodes of dystonia

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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 languageEnglish (US)
Pages (from-to)591-594
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume49
Issue number5
DOIs
StatePublished - 1986
Externally publishedYes

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ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Psychiatry and Mental health
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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