Ontology highlight
ABSTRACT:
SUBMITTER: Rutherford NJ
PROVIDER: S-EPMC3617405 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Neurobiology of aging 20120726 12
Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study we aimed to determine whether the length of the normal-unexpanded-allele of the GGGGCC repeat in C9ORF72 plays a role in the presentation of disease or affects age at onset in C9ORF72 mutation carriers. We also studied whether the GGGGCC repeat length confers risk or affects age at onset in FTD ...[more]