[36型脊髓小脑共济失调的临床与遗传学研究新进展]

[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].

作者信息

Zeng Sheng, Tang Beisha, Wang Junling

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):886-9. doi: 10.3760/cma.j.issn.1003-9406.2015.06.029.

DOI:10.3760/cma.j.issn.1003-9406.2015.06.029

PMID:26663071

Abstract

Non-coding expansion spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases characterized by "CTA/CTG", "ATTCT", "TGGAA" expansion in non-coding region of the causative gene. Until now, 5 subtypes including SCA8, SCA10, SCA12, SCA31 and SCA36 have been mapped. Recently, the causative mutation for SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified in Japanese and Spanish pedigrees in succession. Compared with other subtypes of SCAs, there are certain distinctive characteristics for SCA36. The clinical and genetic features of SCA36 are reviewed in this paper.

摘要

非编码区扩展型脊髓小脑共济失调（SCAs）是一组常染色体显性神经退行性疾病，其特征为致病基因非编码区的“CTA/CTG”、“ATTCT”、“TGGAA”扩展。到目前为止，已定位了包括SCA8、SCA10、SCA12、SCA31和SCA36在内的5个亚型。最近，在日本和西班牙家系中相继发现了SCA36的致病突变，即NOP56基因内含子六核苷酸GGCCTG扩展。与SCAs的其他亚型相比，SCA36有某些独特的特征。本文对SCA36的临床和遗传学特征进行了综述。