OBJECTIVES: To determine the frequency of familial focal and segmental dystonias in a large patient cohort with primary dystonia from north-western Germany. MATERIALS AND METHODS: In this study, 130 patients with focal or segmental dystonia were examined and a family history was obtained. Whenever possible, affected relatives were examined (a total of 789 first-degree relatives). Data on disease duration, age at disease onset and age of the patients were investigated by Student's t-test and a segregation analysis was performed by Weinberg's proband method. RESULTS: Age at onset of disease was significantly later in the blepharospasm group. Only in the writer's cramp group were women outnumbered by men. A positive family history was found in 15 of the 130 index patients (11.5%). None of 102 index patients tested carried the GAG deletion in the DYT1 gene. CONCLUSIONS: In accordance with previous series our study provides evidence that primary focal dystonia may have a genetic etiology, most probably caused by an autosomal dominant trait with reduced penetrance.
OBJECTIVES: To determine the frequency of familial focal and segmental dystonias in a large patient cohort with primary dystonia from north-western Germany. MATERIALS AND METHODS: In this study, 130 patients with focal or segmental dystonia were examined and a family history was obtained. Whenever possible, affected relatives were examined (a total of 789 first-degree relatives). Data on disease duration, age at disease onset and age of the patients were investigated by Student's t-test and a segregation analysis was performed by Weinberg's proband method. RESULTS: Age at onset of disease was significantly later in the blepharospasm group. Only in the writer's cramp group were women outnumbered by men. A positive family history was found in 15 of the 130 index patients (11.5%). None of 102 index patients tested carried the GAG deletion in the DYT1 gene. CONCLUSIONS: In accordance with previous series our study provides evidence that primary focal dystonia may have a genetic etiology, most probably caused by an autosomal dominant trait with reduced penetrance.
Authors: J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux Journal: Neurology Date: 2010-01-19 Impact factor: 9.910
Authors: Fumiaki Yokoi; Huan-Xin Chen; Mai Tu Dang; Chad C Cheetham; Susan L Campbell; Steven N Roper; J David Sweatt; Yuqing Li Journal: PLoS One Date: 2015-03-23 Impact factor: 3.240
Authors: Jianfeng Xiao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Samer D Tabbal; Morvarid Karimi; Randal C Paniello; Andrew Blitzer; Sat Dev Batish; Zbigniew K Wszolek; Ryan J Uitti; Peter Hedera; David K Simon; Daniel Tarsy; Daniel D Truong; Karen P Frei; Ronald F Pfeiffer; Suzhen Gong; Yu Zhao; Mark S LeDoux Journal: BMC Med Genet Date: 2009-03-11 Impact factor: 2.103