Article
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Sept 2013
Harms Matthew B, Cady Janet, Zaidman Craig, Cooper Paul, Bali Taha, Allred Peggy, Cruchaga Carlos, Baughn Michael, Libby Ryan T, Pestronk Alan, Goate Alison, Ravits John, Baloh Robert H
Abstract excerpt
Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and apparently sporadic amyotrophic lateral sclerosis (ALS) and frontal temporal dementia (FTD). The mechanism by which expansions cause neurodegeneration is unknown, but current evidence supports both loss-of-function and gain-of-function mechanisms. We used pooled next-generation sequencing of the C9ORF72 gene in 389 ALS patients to look...
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