Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.

ABSTRACT:

Background and objectives

Pathogenic variations in fused in sarcoma (FUS) are among the most common genetic causes of amyotrophic lateral sclerosis (ALS) worldwide. They are supposedly characterized by a homogeneous pure motor phenotype with early-onset and short disease duration. However, a few FUS-mutated cases with a very late disease onset and slow progression have been reported. To analyze genotype-phenotype correlations and identify the prognostic factors in FUS-ALS cases.

Methods

We identified and cross-sectionally analyzed 22 FUS-ALS patient histories from a single-center cohort of 2,615 genetically tested patients and reviewed 289 previously published FUS-ALS cases. Survival analysis was performed by Kaplan-Meier survival curves, f

SUBMITTER: Grassano M 

PROVIDER: S-EPMC9469212 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature