A recessively inherited ataxia with episodes of dystonia

Neill R. Graff-Radford

doi:10.1136/jnnp.49.5.591

A recessively inherited ataxia with episodes of dystonia

Neill R. Graff-Radford

Neurology

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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	https://doi.org/10.1136/jnnp.49.5.591
State	Published - 1986

ASJC Scopus subject areas

Surgery
Clinical Neurology
Psychiatry and Mental health

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