BACKGROUND AND PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
BACKGROUND AND PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
Authors: Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Baker; Pamela Desaro; Amelia Johnston; Nicola Rutherford; Aleksandra Wojtas; Kathleen Kennelly; Zbigniew K Wszolek; Neill Graff-Radford; Kevin Boylan; Rosa Rademakers Journal: Hum Mutat Date: 2010-05 Impact factor: 4.878
Authors: Rosa Rademakers; Heather Stewart; Mariely Dejesus-Hernandez; Charles Krieger; Neill Graff-Radford; Marife Fabros; Hannah Briemberg; Neil Cashman; Andrew Eisen; Ian R A Mackenzie Journal: Muscle Nerve Date: 2010-08 Impact factor: 3.217
Authors: Daryl A Bosco; Nathan Lemay; Hae Kyung Ko; Hongru Zhou; Chris Burke; Thomas J Kwiatkowski; Peter Sapp; Diane McKenna-Yasek; Robert H Brown; Lawrence J Hayward Journal: Hum Mol Genet Date: 2010-08-10 Impact factor: 6.150