The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS

Autor:	P Van, Damme, A, Goris, V, Race, N, Hersmus, B, Dubois, L Van Den, Bosch, G, Matthijs, W, Robberecht
Rok vydání:	2009
Předmět:	Adult Genetic Markers Male Amyotrophic Lateral Sclerosis Middle Aged Pedigree Cohort Studies Belgium Gene Frequency Mutation Disease Progression Humans RNA-Binding Protein FUS Female Genetic Predisposition to Disease Genetic Testing Age of Onset Aged
Zdroj:	European journal of neurology. 17(5)
ISSN:	1468-1331
Popis:	Mutations in fused in sarcoma (FUS) were recently identified as a cause of familial amyotrophic lateral sclerosis (ALS). The frequency of occurrence of mutations in FUS in sets of patients with familial ALS remains to be established.We sequenced the FUS gene in a cohort of patients with familial ALS seen at the neuromuscular clinic in Leuven. A total of 28 patients with SOD1-negative ALS from 22 families were analyzed.We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS. The mutation segregated with disease. Mutations in FUS were observed in 2.9% of ALS pedigrees in our cohort.These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
Databáze:	OpenAIRE
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