Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis.

ABSTRACT:

Background and objectives

To characterize the clinical and cognitive behavioral phenotype and brain ¹⁸F-2-fluoro-2-deoxy-d-glucose-PET (¹⁸F-FDG-PET) metabolism of patients with amyotrophic lateral sclerosis (ALS) carrying the rs12608932 variant of the UNC13A gene.

Methods

The study population included 1,409 patients with ALS without C9orf72, SOD1, TARDBP, and FUS mutations identified through a prospective epidemiologic ALS register. Control participants included 1,012 geographically matched, age-matched, and sex-matched participants. Clinical and cognitive differences between patients carrying the C/C rs12608932 genotype and those carrying the A/A + A/C genotype were assessed. A subset of patients underwent ¹⁸F-FDG-PET.

SUBMITTER: Calvo A 

PROVIDER: S-EPMC9608390 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature