C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

@article{Ber2013C9ORF72RE,
  title={C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.},
  author={I. Le Ber and A. Camuzat and L. Guillot-Noel and D. Hannequin and L. Lacomblez and V. Golfier and M. Puel and O. Martinaud and V. Deramecourt and S. Rivaud-Pechoux and S. Millecamps and M. Vercelletto and P. Couratier and F. Sellal and F. Pasquier and F. Salachas and C. Thomas-Ant{\'e}rion and M. Didic and J. Pariente and D. Seilhean and M. Ruberg and I. Wargon and F. Blanc and W. Camu and B. Michel and Ė. Berger and M. Sauv{\'e}e and C. Thauvin‐Robinet and K. Mondon and E. Tournier-Lasserve and C. Goizet and M. Fleury and G. Viennet and P. Verpillat and V. Meininger and C. Duyckaerts and B. Dubois and A. Brice},
  journal={Journal of Alzheimer's disease : JAD},
  year={2013},
  volume={34 2},
  pages={
          485-99
        }
}
Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). A GGGGCC expansion in C9ORF72 is a major cause of FTD and ALS. C9ORF72 was analyzed in 833 bvFTD, FTD-ALS, PPA, and PSP/CBDS probands; 202 patients from 151 families carried an expansion. C9ORF72 expansions were much more… Expand
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