Article
C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome.
Journal of the neurological sciences - 15 Dec 2014
Hsiao Cheng-Tsung, Tsai Pei-Chien, Liao Yi-Chu, Lee Yi-Chung, Soong Bing-Wen
Abstract excerpt
The GGGGCC hexanucleotide expansion in the C9ORF72 gene is the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasian populations. The phenotypic spectrum of C9ORF72 hexanucleotide repeat expansion mutation has been reported to include par...
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