脊髓小脑性共济失调SCA36亚型的临床及遗传学研究进展  

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

作　　者：曾胜[1] 唐北沙[1] 王俊岭[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华医学遗传学杂志》2015年第6期886-889,共4页Chinese Journal of Medical Genetics

基　　金：“十二五”国家科技支撑计划项目（2012BA109804）;卫生部公益性行业科研专项基金（201302001）;国家自然科学基金（81130021,81300981,81250015）;高等学校博士学科点专项科研基金（20120162120048）

摘　　要：非编码区异常扩展突变所致的遗传性脊髓小脑共济失调（spinocerebell arataxia，SCA）是一组以“CTA／CTG”、“ATTCT”、“TGGAA”等异常扩展突变发生在致病基因非编码区为特征的常染色体显性遗传性神经退行性疾病与遗传病，目前已发现SCA8、SCA10、SCA12、SCA31、SCA36等5个亚型。SCA36亚型致病基因最近在日本和西班牙家系中相继被克隆出来，为NOP56基因“GGCCTG”六核苷酸异常扩展突变所致，具有不同于其他SCA亚型独特的临床及遗传特点。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.

关 键 词：遗传性脊髓小脑共济失调 非编码区扩展 SCA36 

分 类 号：R744.7[医药卫生—神经病学与精神病学]