多聚谷氨酰胺脊髓小脑共济失调症——从基因到潜在治疗方法
Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
作者信息
Paulson Henry L, Shakkottai Vikram G, Clark H Brent, Orr Harry T
机构信息
Department of Neurology, University of Michigan, Ann Arbor, Michigan, 48109, USA.
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, 55455, USA.
出版信息
Nat Rev Neurosci. 2017 Oct;18(10):613-626. doi: 10.1038/nrn.2017.92. Epub 2017 Aug 17.
Abstract
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.
摘要
显性遗传性脊髓小脑共济失调（SCAs）是一大类多样的神经退行性疾病。最常见的SCAs（SCA1、SCA2、SCA3、SCA6和SCA7）是由受影响基因中编码谷氨酰胺的CAG重复序列扩增引起的。这些SCAs占多聚谷氨酰胺神经退行性疾病的很大一部分，并为整体了解这类疾病提供了线索。近年来，在解读多聚谷氨酰胺SCAs的临床、病理、生理和分子方面取得了相当大的进展，这些进展为寻求潜在的治疗方法奠定了坚实的基础。
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