Identification of a pathogenic mutation in <i>ARPP21</i> in patients with amyotrophic lateral sclerosis.

ABSTRACT:

Background and objective

Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-related genes. Based on a significantly increased incidence of ALS in a small geographical region from Spain, the aim of this work was to identify novel ALS-related genes in ALS cases with negative genetic testing.

Methods

We detected an increased incidence of both sporadic and, especially, familial ALS cases in a small region from Spain compared with available demographic and epidemiological data. We performed whole genome sequencing in a group of 12 patients with ALS (5 of them familial) from this unique area. We expanded the study to incl

SUBMITTER: Dols-Icardo O 

PROVIDER: S-EPMC11877019 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature