C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis
- Diekstra, Frank P
- Van Deerlin, Vivianna M
- van Swieten, John C
- Al-Chalabi, Ammar
- Ludolph, Albert C
- Weishaupt, Jochen H
- Hardiman, Orla
- Landers, John E
- Brown, Robert H
- van Es, Michael A
- Pasterkamp, R Jeroen
- Koppers, Max
- Andersen, Peter M
- Estrada, Karol
- Rivadeneira, Fernando
- Hofman, Albert
- Uitterlinden, André G
- Van Damme, Philip
- Melki, Judith
- Meininger, Vincent
- Shatunov, Aleksey
- Shaw, Christopher E
- Leigh, P Nigel
- Shaw, Pamela J
- Morrison, Karen E
- Fogh, Isabella
- Chiò, Adriano
- Traynor, Bryan J
- Czell, David
- Weber, Markus
- Heutink, Peter
- de Bakker, Paul I W
- Silani, Vincenzo
- Robberecht, Wim
- van den Berg, Leonard H
- Veldink, Jan H
Publication date
July 2014
DOI Publisher
American Neurological Association ISSN
0364-5134 Journal
issn:1531-8249Abstract
Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD.status: publishe
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