The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up study
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up study
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DOI：
10.1212/wnl.0b013e31822e7ca0
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发表时间：
2011-09-01
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：
Jacobi, H.;Bauer, P.;Klockgether, T.
目的：为了获得最常见的脊髓小脑共济失调（SCA）进展的定量数据，并确定影响其进展的因素，我们启动了EUROSCA自然史研究，这是一项对526例SCA1，SCA2，SCA3或SCA6患者进行的多中心纵向队列研究。我们报告了1年和2年的随访结果。方法：作为主要的结果测量，我们使用了共济失调评估和评级量表（SARA，0 - 40），并作为次要措施的非共济失调症状清单（INAS，0 - 16）计数。SCA1中SARA评分的年增幅最大（2.18 +/-0.17，平均值+/-SE），其次是SCA3（1.61 +/-0.12）和SCA2（1.40 +/-0.11）。SCA6中的SARA进展最慢且呈非线性（第一年：0.35 +/-0.34，第二年：1.44 +/-0.34）。对INAS计数的分析得出了类似的结果。在SCA1和SCA2中，更大的扩展重复序列和更早的发病年龄与更快的SARA进展相关。在SCA1中，扩增等位基因的重复长度对INAS进展有类似的影响。在SCA3中，SARA进展受疾病持续时间的影响，在包括，和INAS进展更快的females. Conclusions：我们的研究提供了一个全面的定量的疾病进展SCA1，SCA2，SCA3，SCA6，并确定具体影响疾病进展的因素。神经病学（R）2011; 77：1035 - 1041
Objective: To obtain quantitative data on the progression of the most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated the EUROSCA natural history study, a multicentric longitudinal cohort study of 526 patients with SCA1, SCA2, SCA3, or SCA6. We report the results of the 1-and 2-year follow-up visits.Methods: As the primary outcome measure we used the Scale for the Assessment and Rating of Ataxia (SARA, 0-40), and as a secondary measure the Inventory of Non-Ataxia Symptoms (INAS, 0-16) count.Results: The annual increase of the SARA score was greatest in SCA1 (2.18 +/- 0.17, mean +/- SE) followed by SCA3 (1.61 +/- 0.12) and SCA2 (1.40 +/- 0.11). SARA progression in SCA6 was slowest and nonlinear (first year: 0.35 +/- 0.34, second year: 1.44 +/- 0.34). Analysis of the INAS count yielded similar results. Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2. In SCA1, repeat length of the expanded allele had a similar effect on INAS progression. In SCA3, SARA progression was influenced by the disease duration at inclusion, and INAS progression was faster in females.Conclusions: Our study gives a comprehensive quantitative account of disease progression in SCA1, SCA2, SCA3, and SCA6 and identifies factors that specifically affect disease progression. Neurology (R) 2011; 77: 1035-1041