Ontology highlight
ABSTRACT:
SUBMITTER: Kohli MA
PROVIDER: S-EPMC3586789 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Kohli Martin A MA John-Williams Krista K Rajbhandary Ruchita R Naj Adam A Whitehead Patrice P Hamilton Kara K Carney Regina M RM Wright Clinton C Crocco Elizabeth E Gwirtzman Harry E HE Lang Rosalyn R Beecham Gary G Martin Eden R ER Gilbert John J Benatar Michael M Small Gary W GW Mash Deborah D Byrd Goldie G Haines Jonathan L JL Pericak-Vance Margaret A MA Züchner Stephan S
Neurobiology of aging 20121027 5
Recently, a hexanucleotide repeat expansion in the C9ORF72 gene has been identified to account for a significant portion of Caucasian families affected by frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Given the clinical overlap of FTD with Alzheimer's disease (AD), we hypothesized that C9ORF72 expansions might contribute to AD. In Caucasians, we found C9ORF72 expansions in the pathogenic range of FTD/ALS (>30 repeats) at a proportion of 0.76% in AD cases versus 0 in cont ...[more]