Article
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family.
Neuroscience letters - 2 Aug 2010
Yuan Yuan, Zhou Xin, Ding Feng, Liu Yumin, Tu Jiancheng
Abstract excerpt
The pathological changes of spinocerebellar ataxias (SCAs), mainly include the degeneration of the cerebellum, spinal cord and brainstem. To investigate the genotype of a three-generation Chinese Han pedigree with an autosomal dominant SCA for clinical diagnosis and genetic counseling, direct mutation test and linkage analysis were performed. SCA1-8, SCA10-14, SCA17, SCA27 and dentatorubral-pallidoluysian atrophy...
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