Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, Elisa; E. Renton, Alan; Y. Mok, Kin; G.P. Dopper, Elise; J. Waite, Adrian; Rollinson, Sara; Chiò, Adriano; Restagno, Gabriella; Nicolaou, Nayia; Simón‐Sánchez, Javier; C. van Swieten, John; Abramzon, Yevgeniya; O. Johnson, Janel; Sendtner, Michael; Pamphlett, Roger; W. Orrell, Richard; Mead, Simon; Sidle, Katie; Houlden, Henry; D. Rohrer, Jonathan; Morrison, Karen; Pall, Hardev; Talbot, Kevin; Ansorge, Olaf; G. Hernandez, Dena; Arepalli, Sampath; Sabatelli, Mario; Mora, Gabriele; Corbo, Massimo; Giannini, Fabio; Calvo, Andrea; Englund, Elisabet; Borghero, Giuseppe; Floris, Gianluca; M. Remes, Anne; Laaksovirta, Hannu; McCluskey, Leo; Q. Trojanowski, John; M. Van Deerlin, Vivianna; D. Schellenberg, Gerard; A. Nalls, Michael; E. Drory, Vivian; Lu, Chin‐Song; Yeh, Tu‐Hsueh; Ishiura, Hiroyuki; Takahashi, Yuji; Tsuji, Shoji; Le Ber, Isabelle; Brice, Alexis; Drepper, Carsten; Williams, Nigel; Kirby, Janine; J. Shaw, Pamela; Hardy, John; J. Tienari, Pentti; Heutink, Peter; R. Morris, Huw; Pickering‐Brown, Stuart; J. Traynor, Bryan

doi:10.1016/s1474-4422(12)70043-1

Public

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Published in The Lancet Neurology • Mar 9, 2012

Authors:

Elisa Majounie

Alan E. Renton

Kin Y. Mok

Abstract

BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). METHODS: We screened 4448 patients diagnosed with ALS (El Esco...

Subject

C9orf72

Frontotemporal dementia

Amyotrophic lateral sclerosis

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