Article
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
The Lancet. Neurology - 1 Jan 2012
Gijselinck Ilse, Van Langenhove Tim, van der Zee Julie, Sleegers Kristel, Philtjens Stéphanie, Kleinberger Gernot, Janssens Jonathan, Bettens Karolien, Van Cauwenberghe Caroline, Pereson Sandra, Engelborghs Sebastiaan, Sieben Anne, De Jonghe Peter, Vandenberghe Rik, Santens Patrick, De Bleecker Jan, Maes Githa, Bäumer Veerle, Dillen Lubina, Joris Geert, Cuijt Ivy, Corsmit Ellen, Elinck Ellen, Van Dongen Jasper, Vermeulen Steven, Van den Broeck Marleen, Vaerenberg Carolien, Mattheijssens Maria, Peeters Karin, Robberecht Wim, Cras Patrick, Martin Jean-Jacques, De Deyn Peter P, Cruts Marc, Van Broeckhoven Christine
Abstract excerpt
BACKGROUND: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum. A locus on chromosome 9p21 has been associated with both disorders, and we aimed to identify the causal gene within this region. METHODS: We studied 305 patients with FTLD, 137 with ALS, and 23 with concomitant FTLD and ALS...
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