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

Szczegóły
Abstrakt

Tytuł:: The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS.
Autorzy:: Damme PV; Department of Neurology, Leuven University Hospital, Herestraat 49, 3000 Leuven, Belgium. />Goris A
Race V
Hersmus N
Dubois B
Bosch LV
Matthijs G
Robberecht W
Źródło:: European journal of neurology [Eur J Neurol] 2010 May; Vol. 17 (5), pp. 754-6. Date of Electronic Publication: 2009 Nov 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: <2014- > : Oxford : Wiley
Original Publication: Oxford ; New York : Rapid Communications, [1994-
MeSH Terms:: Amyotrophic Lateral Sclerosis/*genetics
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
RNA-Binding Protein FUS/*genetics
Adult ; Age of Onset ; Aged ; Amyotrophic Lateral Sclerosis/epidemiology ; Belgium ; Cohort Studies ; Disease Progression ; Female ; Gene Frequency/genetics ; Genetic Markers/genetics ; Genetic Predisposition to Disease/epidemiology ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree
Substance Nomenclature:: 0 (Genetic Markers)
0 (RNA-Binding Protein FUS)
Entry Date(s):: Date Created: 20091120 Date Completed: 20110110 Latest Revision: 20151113
Update Code:: 20240104
DOI:: 10.1111/j.1468-1331.2009.02859.x
PMID:: 19922450
: Czasopismo naukowe

Full Text Finder

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.

Informacja