Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.

@article{Kohli2013RepeatEI,
  title={Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.},
  author={Martin A. Kohli and Krista John-Williams and Ruchita Rajbhandary and Adam C Naj and Patrice L. Whitehead and Kara L. Hamilton and Regina M. Carney and Clinton Wright and Elizabeth Crocco and Harry E Gwirtzman and Rosalyn Lang and Gary W. Beecham and Eden R. Martin and John B. Gilbert and Michael Benatar and Gary W. Small and Deborah C. Mash and Goldie S. Byrd and Jonathan L. Haines and Margaret A. Pericak-Vance and Stephan Z{\"u}chner},
  journal={Neurobiology of aging},
  year={2013},
  volume={34 5},
  pages={1519.e5-12}
}
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… CONTINUE READING
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