Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis.

ABSTRACT:

Background

The UNC13A gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life expectancy for carriers of the rs12608932 risk genotype. However, its overall effect on other clinical features and ALS phenotypic variability is controversial.

Methods

Genotype data of the UNC13A rs12608932 SNP (A-major allele; C-minor allele) was obtained from a cohort of 972 ALS patients. Demographic and clinical variables were collected, including cognitive and behavioral profiles, evaluated through the Edinburgh Cognitive and Behavioral ALS Screen (ECAS) - Italian version and the Frontal Behavioral Inventory (FBI); upper and lower motor neuron involveme

SUBMITTER: Manini A 

PROVIDER: S-EPMC9931189 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature