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C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Frank P Diekstra
1 ,
Vivianna M Van Deerlin ,
John C van Swieten ,
Ammar Al-Chalabi ,
Albert C Ludolph ,
Jochen H Weishaupt ,
Orla Hardiman ,
John E Landers ,
Robert H Brown ,
Michael A van Es ,
R Jeroen Pasterkamp ,
Max Koppers ,
Peter M Andersen ,
Karol Estrada ,
Fernando Rivadeneira ,
Albert Hofman ,
André G Uitterlinden ,
Philip van Damme ,
Judith Melki ,
Vincent Meininger ,
Aleksey Shatunov ,
Christopher E Shaw ,
P Nigel Leigh ,
Pamela J Shaw ,
Karen E Morrison ,
Isabella Fogh ,
Adriano Chiò ,
Bryan J Traynor ,
David Czell ,
Markus Weber ,
Peter Heutink ,
Paul I W de Bakker ,
Vincenzo Silani ,
Wim Robberecht ,
Leonard H van den Berg ,
Jan H Veldink
Jul 2014
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Abstract
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.