Spinocerebellar ataxia types 1, 2, 3, and 6 -: Disease severity and nonataxia symptoms
Spinocerebellar ataxia types 1, 2, 3, and 6 -: Disease severity and nonataxia symptoms
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DOI：
10.1212/01.wnl.0000325057.33666.72
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发表时间：
2008-09-23
期刊：
影响因子：
9.9
通讯作者：
Klockgether, T.
中科院分区：
文献类型：
--
作者：
Schmitz-Huebsch, T.;Coudert, M.;Klockgether, T.
目的：为了确定最常见的脊髓小脑共济失调（SCA）的疾病严重程度和临床表型的决定因素，我们研究了526例SCA 1，SCA 2，SCA 3患者。方法：采用共济失调评估和分级量表（SARA）测量共济失调的严重程度。此外，使用非共济失调症状量表（INAS）评估非共济失调症状。INAS计数表示每位患者的非共济失调症状数量。以SARA评分为因变量，扩增和正常等位基因的重复长度、发病年龄和疾病持续时间为自变量进行协方差分析，得出多变量模型，SCA 1解释了60.4%的SARA评分方差，SCA 2解释了45.4%，SCA 3解释了46.8%，SCA 6为33.7%。在SCA 1、SCA 2和SCA 3中，SARA主要由扩展等位基因的重复长度、发病年龄和病程决定。SCA 6中决定SARA评分的唯一因素是发病时的年龄和疾病持续时间。SCA 1的INAS计数为5.0 +/- 2.3，SCA 2为4.6 +/- 2.2，SCA 3为5.2 +/- 2.5，SCA 6为2.0 +/- 1.7。在SCA 1、SCA 2和SCA 3中，SARA评分和疾病持续时间是INAS计数的最强预测因子。在SCA 6中，只有发病年龄和疾病持续时间对INAS计数有影响。结论：我们的研究表明，脊髓小脑性共济失调（SCA）1，SCA 2和SCA 3共享一些共同的生物学特性，而SCA 6是不同的，它的表型是由年龄比疾病相关因素决定的。
Objective: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.Methods: To measure the severity of ataxia we used the Scale for the Assessment and Rating of Ataxia ( SARA). In addition, nonataxia symptoms were assessed with the Inventory of Non-Ataxia Symptoms (INAS). The INAS count denotes the number of nonataxia symptoms in each patient.Results: An analysis of covariance with SARA score as dependent variable and repeat lengths of the expanded and normal allele, age at onset, and disease duration as independent variables led to multivariate models that explained 60.4% of the SARA score variance in SCA1, 45.4% in SCA2, 46.8% in SCA3, and 33.7% in SCA6. In SCA1, SCA2, and SCA3, SARA was mainly determined by repeat length of the expanded allele, age at onset, and disease duration. The only factors determining the SARA score in SCA6 were age at onset and disease duration. The INAS count was 5.0 +/- 2.3 in SCA1, 4.6 +/- 2.2 in SCA2, 5.2 +/- 2.5 in SCA3, and 2.0 +/- 1.7 in SCA6. In SCA1, SCA2, and SCA3, SARA score and disease duration were the strongest predictors of the INAS count. In SCA6, only age at onset and disease duration had an effect on the INAS count.Conclusions: Our study suggests that spinocerebellar ataxia (SCA) 1, SCA2, and SCA3 share a number of common biologic properties, whereas SCA6 is distinct in that its phenotype is more determined by age than by disease-related factors.