GENETIC CONTRIBUTION TO IDIOPATHIC ADULT-ONSET BLEPHAROSPASM AND CRANIAL-CERVICAL DYSTONIA
GENETIC CONTRIBUTION TO IDIOPATHIC ADULT-ONSET BLEPHAROSPASM AND CRANIAL-CERVICAL DYSTONIA
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DOI：
10.1159/000116969
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发表时间：
1993-09-01
影响因子：
2.4
通讯作者：
FERRARI, E
中科院分区：
文献类型：
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作者：
DEFAZIO, G;LIVREA, P;FERRARI, E
对 29 名患有特发性成人发病的眼睑痉挛 (n = 16) 和颅颈肌张力障碍 (n = 13) 的患者进行了一项家庭研究，对 189 名一级亲属进行了检查。 6 个家庭中有 6 名亲属患有肌张力障碍。另外 3 名受影响的亲属来自另外 2 个家庭，现已去世。所有继发病例都是父母或兄弟姐妹。受影响的亲属有与指示患者相同类型的肌张力障碍的倾向。为了评估继发病例的重要性，我们比较了先证者及其配偶之间受影响兄弟姐妹的发生率。 120 名先证者兄弟姐妹中有 5 人发现肌张力障碍，而 142 名配偶兄弟姐妹中没有一人受到影响（p < 0.05）。分离分析表明常染色体显性遗传和外显率降低或多基因遗传。
A family study in 29 patients with idiopathic adult-onset blepharospasm (n = 16) and cranial-cervical dystonia (n = 13) was undertaken by examining 189 first-degree relatives. Six relatives with dystonia were identified in 6 families. A further 3 affected relatives, now deceased, were from 2 other families. All the secondary cases were parents or siblings. There was a tendency for affected relatives to have the same type of dystonia of index patients. To assess the significance of secondary cases we compare the incidence of affected siblings between probands and their spouses. Dystonia was found in 5 out of 120 proband siblings whereas none of the 142 spouse siblings was affected (p < 0.05). Segregation analysis suggested an autosomal-dominant transmission and reduced penetrance or, alternatively, polygenic inheritance.