Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

ABSTRACT: OBJECTIVE:Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype-phenotype correlations and malignancy rates in a newly compiled FUS-ALS cohort. METHODS:We cross-sectionally reviewed FUS-ALS patient histories in a multicenter cohort with 36 novel cases and did a meta-analysis of published FUS-ALS cases reporting the largest genotype-p

SUBMITTER: Naumann M 

PROVIDER: S-EPMC6917314 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature