严重全身性肌张力障碍作为共济失调性毛细血管扩张症突变基因患者的一种表现。
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
作者信息
Sekijima Yoshiki, Hashimoto Takao, Onodera Osam, Date Hidetoshi, Okano Tomomi, Naito Kosuke, Tsuji Shoji, Ikeda Shu-ichi
机构信息
Third Department of Medicine, Shinshu University School of Medicine, Asahi, Matsumoto, Japan.
出版信息
Mov Disord. 2003 Oct;18(10):1198-200. doi: 10.1002/mds.10526.
PMID:14534929
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.
摘要
本文描述了一名14岁女孩，其aprataxin（APTX）基因存在689位插入T的纯合突变。她表现为严重的全身性肌张力障碍、共济失调、眼球运动失用和无反射。该患者的肌张力障碍提示基底神经节或丘脑受累，同时也体现了该疾病的临床多样性。
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