Spinocerebellar ataxia: an update

被引：230

作者：

Sullivan, Roisin ^{[1
]}

Yau, Wai Yan ^{[1
]}

O'Connor, Emer ^{[1
]}

Houlden, Henry ^{[1
]}

机构：

[1] UCL Queens Sq Inst Neurol, Dept Neuromuscular Dis, Queens Sq House,Queens Sq, London WC1N 3BG, England

来源：

JOURNAL OF NEUROLOGY | 2019年 / 266卷 / 02期

基金：

英国医学研究理事会;

关键词：

Spinocerebellar ataxia; Molecular diagnosis; Next-generation sequencing; DOMINANT CEREBELLAR-ATAXIA; CAG TRINUCLEOTIDE REPEAT; MACHADO-JOSEPH-DISEASE; SENSORY NEUROPATHY; SPASTIC PARAPLEGIA; HEREDITARY ATAXIA; CLINICAL-FEATURES; PURKINJE NEURONS; GENETIC-ANALYSIS; MOUSE MODEL;

D O I：

10.1007/s00415-018-9076-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include toxic RNA gain-of-function, mitochondrial dysfunction, channelopathies, autophagy and transcription dysregulation. Recent studies have also demonstrated the importance of DNA repair pathways in modifying SCA with CAG expansions. In addition, we summarise the latest technological advances in detecting known and novel repeat expansion in SCA. Finally, we discuss the roles of antisense oligonucleotides and RNA-based therapy as potential treatments.

引用

页码：533 / 544

页数：12

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