6533b856fe1ef96bd12b1dba
RESEARCH PRODUCT
FUS mutations in sporadic amyotrophic lateral sclerosis
Amelia ConteMario SabatelliMaria Rosaria MonsurròTravis DunckleyIlaria BartolomeiYevgeniya AbramzonGabriella RestagnoKalliopi MarinouShiao Lin LaiShiao Lin LaiPatrizia SolaGioacchino TedeschiFabio GianniniMark R. CooksonAllissa DillmanGiovanni Luigi MancardiFabrizio SalviRossella SpataroDietrich A. StephanGabriele MoraClaudia CaponnettoAdriano ChiòBryan J. TraynorJessica MandrioliAndrea CalvoStefania BattistiniFederica LombardoJennifer C. SchymickJennifer C. Schymicksubject
AdultMaleAgingAmyotrophic lateral sclerosis; FUS; Italy; Sporadic disease; United States of America;AdolescentGenotypesporadic patientsDNA Mutational AnalysisALS; FUS mutations; sporadic patientsBiologymedicine.disease_causeArticlePathogenesisExonYoung AdultDNA Mutational AnalysisGenotypemedicineHumansFUS mutationsAmyotrophic lateral sclerosisChildGeneAgedGeneticsAged 80 and overMutationGeneral NeuroscienceAmyotrophic Lateral Sclerosisamyotrophic lateral sclerosis FUS geneticsExonsMiddle Agedmedicine.diseaseUnited StatesSettore MED/26 - NEUROLOGIAItalyMutationRNA-Binding Protein FUSFemaleNeurology (clinical)Geriatrics and GerontologyALSDevelopmental BiologyRNA-Binding Protein FUSdescription
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 .
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-01-01 |