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FUS mutations in sporadic amyotrophic lateral sclerosis
- Publication Year :
- 2011
-
Abstract
- Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .
- Subjects :
- Adult
Male
Aging
Amyotrophic lateral sclerosis
FUS
Italy
Sporadic disease
United States of America
Adolescent
Genotype
sporadic patients
DNA Mutational Analysis
ALS
FUS mutations
Biology
medicine.disease_cause
Article
Pathogenesis
Exon
Young Adult
medicine
Humans
Child
Gene
Aged
Genetics
Aged, 80 and over
Mutation
General Neuroscience
Amyotrophic Lateral Sclerosis
amyotrophic lateral sclerosis, FUS, genetics
Exons
Middle Aged
medicine.disease
United States
Settore MED/26 - NEUROLOGIA
RNA-Binding Protein FUS
Female
Neurology (clinical)
Geriatrics and Gerontology
Developmental Biology
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....9a65e78eb78b42c62bbc1050de435d8d