Mondal Banashree, Paul Pritikanta, Paul Madhuparna, Kumar Hrishikesh
R.G. Chamaria Medical Research Center Institute of Neurosciences, Kolkata, India.
Ann Indian Acad Neurol. 2013 Jul;16(3):295-303. doi: 10.4103/0972-2327.116896.
The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity. Recent awareness of molecular abnormalities in SCAs has addressed some of the long sought questions, but gaps in knowledge still exist. Three major categories of SCAs, according to molecular mechanisms, have evolved over recent few years: Polyglutamate expansion ataxia, non-coding zone repeat ataxia, and ataxia due to conventional mutation. Using the fulcrum of these mechanisms, the article provides an update of SCAs. Shared and specific clinical features, genetic abnormalities, and possible links between molecular abnormalities and cerebellar degeneration have been discussed. Emphasis has been placed on the mechanisms of polyglutamate toxicity.
显性遗传性共济失调，也称为脊髓小脑共济失调（SCA），是一个正在迅速扩展的疾病群体。新的突变正以惊人的频率被发现。最近对SCA分子异常的认识解决了一些长期以来备受关注的问题，但知识空白仍然存在。根据分子机制，近年来SCA已发展出三大类：多聚谷氨酸扩增性共济失调、非编码区重复共济失调以及由传统突变导致的共济失调。基于这些机制，本文对SCA进行了更新。文中讨论了其共同和特定的临床特征、基因异常以及分子异常与小脑变性之间可能存在的联系。重点阐述了多聚谷氨酸毒性的机制。
