High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

ABSTRACT:

Background and purpose

Galactocerebrosidase (GALC) deficiency causes Krabbe disease, a severe lysosomal neurodegenerative condition. Emerging evidence suggests that heterozygous GALC variants may contribute to multiple sclerosis, attention-deficit hyperactivity disorder, and synucleinopathies. We aim to investigate the potential association between GALC heterozygous variants and neurodegenerative disorders, expanding on existing literature.

Methods

We screened 110 adults with symptoms shared by lysosomal storage disorders (LSDs) and common neurodegenerative diseases, such as Parkinson's disease, Lewy body dementia, and ataxias of different etiology.

Results

We found GALC heterozygosity in this group to be notably enriched, approximately 1 in 28, compared to 1 in 150 i

SUBMITTER: Feo F 

PROVIDER: S-EPMC12090362 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature