Article
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
The Lancet. Neurology - 1 Apr 2012
Majounie Elisa, Renton Alan E, Mok Kin, Dopper Elise G P, Waite Adrian, Rollinson Sara, Chiò Adriano, Restagno Gabriella, Nicolaou Nayia, Simon-Sanchez Javier, van Swieten John C, Abramzon Yevgeniya, Johnson Janel O, Sendtner Michael, Pamphlett Roger, Orrell Richard W, Mead Simon, Sidle Katie C, Houlden Henry, Rohrer Jonathan D, Morrison Karen E, Pall Hardev, Talbot Kevin, Ansorge Olaf, Hernandez Dena G, Arepalli Sampath, Sabatelli Mario, Mora Gabriele, Corbo Massimo, Giannini Fabio, Calvo Andrea, Englund Elisabet, Borghero Giuseppe, Floris Gian Luca, Remes Anne M, Laaksovirta Hannu, McCluskey Leo, Trojanowski John Q, Van Deerlin Vivianna M, Schellenberg Gerard D, Nalls Michael A, Drory Vivian E, Lu Chin-Song, Yeh Tu-Hsueh, Ishiura Hiroyuki, Takahashi Yuji, Tsuji Shoji, Le Ber Isabelle, Brice Alexis, Drepper Carsten, Williams Nigel, Kirby Janine, Shaw Pamela, Hardy John, Tienari Pentti J, Heutink Peter, Morris Huw R, Pickering-Brown Stuart, Traynor Bryan J
Abstract excerpt
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 Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC...
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