Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
J Cell Biol. 2012 Apr 16;197(2):167-77. doi: 10.1083/jcb.201105092.
Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its "normal" cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics.
共济失调是一种以身体运动失控为特征的神经紊乱。脊髓小脑共济失调（SCA），以前称为常染色体显性小脑共济失调，是一组近 30 种进行性神经退行性疾病，具有很强的生物学特征。六种 SCA 包括更为常见的 SCA1、SCA2、SCA3 和 SCA6，以及 SCA7 和 SCA17，都是由编码受影响蛋白中多谷氨酰胺链的 CAG 重复扩展引起的。这些多谷氨酰胺 SCA 中的突变蛋白如何引起疾病存在高度争议。最近的工作表明，突变蛋白在其“正常”细胞功能的背景下有助于发病机制。因此，了解这些蛋白质的细胞功能可能有助于开发治疗方法。
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