Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/1114
Title: A genetic study of idiopathic focal dystonias
Authors: Stojanović, Marina
Cvetković, Dragana 
Kostić, Vladimir
Keywords: Blepharospasm;Dystonia;Genetics;Torticollis
Issue Date: 1-Aug-1995
Publisher: Springer-Verlag
Journal: Journal of Neurology
Abstract: 
The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis (n = 21), blepharospasm (n = 18) and writer's cramp (n = 4). They generated a potential population of 235 first-degree relatives, and 168 out of 179 living first-degree relatives were examined. Ten relatives with dystonia were identified in ten families. Another two parents from two of the same group of ten families were affected according to the family history. The majority of the secondary cases (six patients, five siblings, and one child) were not aware of any dystonia. The tendency for affected relatives to have the same type of dystonia as index patients was observed only for torticollis. Overall, 23% of index patients had relatives with dystonia. Segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dystonia. © 1995 Springer-Verlag.
URI: https://biore.bio.bg.ac.rs/handle/123456789/1114
ISSN: 0340-5354
DOI: 10.1007/BF00867421
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