Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

ABSTRACT:

Background

5-10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60-70% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS/FTD genes in ALS patients.

Methods

We analyzed ALS and ALS/FTD associated genes by direct sequencing or next-generation sequencing multigene panels in ALS patients.

Results

Genetic abnormalities in ALS major genes included repeated expansions of hexanucleotide in C9orf72 gene (7.3%), mutations in SOD1 (4.9%), FUS (2.1%), and TARDBP (2.4%), whereas variants in rare ALS/FTD genes affected 15.5% of subjects overall, mo

SUBMITTER: Bartoletti-Stella A 

PROVIDER: S-EPMC8463338 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature