Hering Sascha, Achmüller Clemens, Köhler Andrea, Poewe Werner, Schneider Raine, Boesch Sylvia M
Department of Neurology, Innsbruck Medical University, Austria.
Mov Disord. 2009 Apr 15;24(5):774-7. doi: 10.1002/mds.22465.
We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium-carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2.
我们报告了一位来自患有2型脊髓小脑共济失调（SCA2）的多代家族的67岁女性患者，其疾病进程异常良性。尽管目前所有SCA2基因携带者均已出现主要的步态共济失调和脑干动眼功能障碍，但该索引患者的疾病进程非常轻微，在病程13年后的共济失调评估和评分量表上仅得6分。此外，家庭成员之间的代内变异性较低，如发病年龄和疾病进程。对本文报道的SCA2基因携带者的遗传背景变量进行重新研究发现，正常等位基因中有27个重复序列，异常等位基因中有37个不间断重复序列。有趣的是，该患者因精神病性抑郁服用碳酸锂超过30年。尽管只是个案，但这个SCA2病例可能为SCA2可能的疾病修饰机制提供有前景的见解。
