FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

Abstract Our objective was to investigate the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort undergoing a mutational study for SOD1 in 2006. We screened 25 probands from non-SOD1 families for FUS/TLS mutations. We identified two FALS probands with FUS/TLS mutations. One carried a C...

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Bibliographic Details
Published in:Amyotrophic lateral sclerosis 2011-03, Vol.12 (2), p.118-123
Main Authors: Syriani, Enrique, Morales, Miguel, Gamez, Josep
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Aged
ALS6
amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - mortality
Carrier State
DNA Mutational Analysis
epidemiology
familial amyotrophic lateral sclerosis
Female
FUS/TLS
Fused in sarcoma
Genetic Predisposition to Disease
Genotype
Humans
K510E
Male
Middle Aged
MIM 608030
Mutation
Pedigree
Phenotype
R521C
RNA-Binding Protein FUS - genetics
RNA-Binding Protein FUS - metabolism
Spain
Survival Rate
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Summary:Abstract Our objective was to investigate the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort undergoing a mutational study for SOD1 in 2006. We screened 25 probands from non-SOD1 families for FUS/TLS mutations. We identified two FALS probands with FUS/TLS mutations. One carried a C-to-T transition at nucleotide position 1561 (c.1561C>T) producing a p.R521C sequence change at protein level. The phenotype was characterized by a young age at onset (38.2 years old), proximal limb girdle weakness, predominant lower motor neuron signs and dropped head. Survival time ranged from 10 to 36 months. Obligate asymptomatic carriers were detected. Our second ALS6 pedigree carried a C-to-T transition at nucleotide position 1528 (c.1528G>A) producing a p.K510E sequence change at protein level. The phenotype was of an early onset (
ISSN:1748-2968
1471-180X
DOI:10.3109/17482968.2010.539235