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Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation

✍ Scribed by Yoshiki Sekijima; Takao Hashimoto; Osam Onodera; Hidetoshi Date; Tomomi Okano; Kosuke Naito; Shoji Tsuji; Shu-ichi Ikeda

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
389 KB
Volume
18
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 Society

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