TY - JOUR
T1 - A recessively inherited ataxia with episodes of dystonia
AU - Graff-Radford, Neill R.
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1986
Y1 - 1986
N2 - 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.
AB - 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.
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U2 - 10.1136/jnnp.49.5.591
DO - 10.1136/jnnp.49.5.591
M3 - Article
C2 - 3711921
AN - SCOPUS:0022622811
VL - 49
SP - 591
EP - 594
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 5
ER -