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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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