Ontology highlight
ABSTRACT:
SUBMITTER: Harms MB
PROVIDER: S-EPMC3679344 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Neurobiology of aging 20130416 9
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 for traditional loss-of-function mutations. Although rare variants were identified, ...[more]