Waddy H M, Fletcher N A, Harding A E, Marsden C D
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Ann Neurol. 1991 Mar;29(3):320-4. doi: 10.1002/ana.410290315.
A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.
通过对40名索引患者的153名一级亲属进行研究，开展了一项特发性局灶性肌张力障碍的遗传学研究。这些索引患者包括14名斜颈患者、16名其他局灶性颅肌张力障碍患者和10名书写痉挛患者。在6个家庭中鉴定出9名患有肌张力障碍的亲属；其中8名有笨拙或震颤等症状，但均未意识到自己患有任何肌张力障碍。另有4名亲属，现已减少，有相关病史。总体而言，25%的索引患者有患有肌张力障碍的亲属。分离分析结果表明，存在一种常染色体显性基因或几种外显率降低的基因，是局灶性肌张力障碍的常见病因。分离比率与在英国观察到的全身性或节段性肌张力障碍的比率无显著差异，并且有可能单个常染色体显性基因突变是大多数患者遗传性肌张力障碍的原因，而不论其分布或严重程度如何。
