作者@article {van de Warrenburg702 = {B.P.C.van de Warrenburg和R.J. Sinke林祖嘉Verschuuren {\ textendash} Bemelmans h·雅伯和雌激素受体冲击功率因数Ippel和j真理正义之神{\ textendash} Kievit d . Dooijes和北卡罗来纳州Notermans和d . Lindhout N.V.A.M. Knoers和H.P.H.克雷默},title ={脊髓小脑的共济失调在荷兰},体积={58}={5},页面= {702 - 708}= {2002},doi = {10.1212 / WNL.58.5.702},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景:国际流行的估计常染色体显性小脑共济失调(ADCA)从0.3到2.0每100000人不等。首页在荷兰的患病率ADCA是未知的。15个基因位点(SCA-1-8, SCA-10-14、SCA-16 SCA-17)和9名相应的基因已经被克隆。SCA6,本来,SCA2 SCA3 SCA7, SCA-12 SCA-17突变已被证明是一个扩大CAG重复。此前,CAG重复发现的长度占50到80 \ %发病年龄的差异。因为编码蛋白质的异质性,不同的病理生理机制可能导致神经退化。发病年龄之间的关系CAG重复长度和相应会有所不同。方法:基于SCA突变分析的结果的三个基因诊断实验室服务整个荷兰人口,作者调查的家庭数量和影响个人/ SCA基因,以及个人重复长度和发病年龄。回归分析应用研究之间的关系CAG重复发病年龄长度和每个SCA基因。 The slopes of the different regression curves were compared. Results: On November 1, 2000, mutations were found in 145 ADCA families and 391 affected individuals were identified. The authors extrapolated a minimal prevalence of 3.0 per 100,000 (range 2.8 to 3.8/100,000). SCA3 was the most frequent mutation. CAG repeat length contributed to 52 to 76\% of age at onset variance. Regression curve slopes for SCA-1, SCA2, SCA3, and SCA7 did not differ significantly. Conclusions: The estimated minimal prevalence of ADCA in the Netherlands is 3.0 per 100,000 inhabitants. Except for SCA6, the relationship between age at onset and CAG repeat expansion does not differ significantly between SCA-1, SCA2, SCA3, and SCA7 patient groups in our population, indicating that these SCA subtypes share similar mechanisms of polyglutamine-induced neurotoxicity, despite heterogeneity in gene products.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/58/5/702}, eprint = {//www.ez-admanager.com/content/58/5/702.full.pdf}, journal = {Neurology} }