Authors
Elisa Majounie, Alan E Renton, Kin Mok, Elise GP Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C Van Swieten, Yevgeniya Abramzon, Janel O Johnson, Michael Sendtner, Roger Pamphlett, Richard W Orrell, Simon Mead, Katie C Sidle, Henry Houlden, Jonathan D Rohrer, Karen E Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Floris, Anne M Remes, Hannu Laaksovirta, Leo McCluskey, John Q Trojanowski, Vivianna M Van Deerlin, Gerard D Schellenberg, Michael A Nalls, Vivian E Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J Tienari, Peter Heutink, Huw R Morris, Stuart Pickering-Brown, Bryan J Traynor
Publication date
2012/4/1
Journal
The Lancet Neurology
Volume
11
Issue
4
Pages
323-330
Publisher
Elsevier
Description
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 hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion.
Findings
In patients with …
Total citations
Scholar articles
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite… - The Lancet Neurology, 2012