Article
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.
Neurobiology of aging - 1 Mar 2017
Perrone Federica, Nguyen Hung Phuoc, Van Mossevelde Sara, Moisse Matthieu, Sieben Anne, Santens Patrick, De Bleecker Jan, Vandenbulcke Mathieu, Engelborghs Sebastiaan, Baets Jonathan, Cras Patrick, Vandenberghe Rik, De Jonghe Peter, De Deyn Peter P, Martin Jean-Jacques, Van Damme Philip, Van Broeckhoven Christine, van der Zee Julie
Abstract excerpt
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss...
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