Article
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
Neurobiology of aging - 1 May 2013
Kohli Martin A, John-Williams Krista, Rajbhandary Ruchita, Naj Adam, Whitehead Patrice, Hamilton Kara, Carney Regina M, Wright Clinton, Crocco Elizabeth, Gwirtzman Harry E, Lang Rosalyn, Beecham Gary, Martin Eden R, Gilbert John, Benatar Michael, Small Gary W, Mash Deborah, Byrd Goldie, Haines Jonathan L, Pericak-Vance Margaret A, Züchner Stephan
Abstract excerpt
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...
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