FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

ABSTRACT:

Background

Mutations in the fused in sarcoma (FUS) gene have been associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor. Among the FUS mutations, p.P525L as a hot spot variant has been reported in more than 20 patients with ALS. Apart from the typical ALS phenotype, patients with p.P525L mutation exhibit some atypical symptoms. However, movement disorders related to p.P525L mutation have not been emphasized currently.

Methods

Two unrelated patients with ALS were evaluated through a set of clinical and laboratory tests. The genetic screening was performed through next-generation sequencing. Muscle biopsies were performed on the 2 patients. Muscle samples were stained according to standard histological and immunohistochemi

SUBMITTER: Zhou B 

PROVIDER: S-EPMC7303404 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature