Genetic Contribution to Idiopathic Adult-Onset Blepharospasm and Cranial-Cervical Dystonia
作者:
G. Defazio,
P. Livrea,
G. Guanti,
V. Lepore,
E. Ferrari,
期刊:
European Neurology
(Karger Available online 1993)
卷期:
Volume 33,
issue 5
页码: 345-350
ISSN:0014-3022
年代: 1993
DOI:10.1159/000116969
出版商: S. Karger AG
关键词: Dystonia;Blepharospasm;Genetics
数据来源: Karger
摘要:
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.
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