Spinocerebellar ataxia type 7 (SCA7):: a neurodegenerative disorder with neuronal intranuclear inclusions
Spinocerebellar ataxia type 7 (SCA7):: a neurodegenerative disorder with neuronal intranuclear inclusions
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DOI：
10.1093/hmg/7.5.913
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发表时间：
1998-05-01
影响因子：
3.5
通讯作者：
Brice, A
中科院分区：
文献类型：
--
作者：
Holmberg, M;Duyckaerts, C;Brice, A
伴有进行性黄斑变性的常染色体显性遗传性小脑共济失调是由SCA 7基因/蛋白中的CAG/谷氨酰胺重复扩增引起的。神经元核内包涵体被检测到在大脑中的一个早发性SCA 7的情况下，1C 2抗体针对扩大的聚谷氨酰胺结构域。核包涵体是最常见的下橄榄复合体，在SCA 7严重的神经元丢失的网站。在其他大脑区域也观察到它们，包括大脑皮层，这些区域被认为不受疾病的影响。使用共聚焦显微镜，我们发现一些包涵体是泛素化的，但程度不同，范围从
Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from