Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
- 1 October 2003
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 18 (10) , 1198-1200
- https://doi.org/10.1002/mds.10526
Abstract
A 14‐year‐old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder. © 2003 Movement Disorder SocietyKeywords
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