biostudies-literatureUnknown32(5)Feo FRegione Toscana (Bando Salute 2018, DD15397<h4>Background and purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>We found GALC heterozygosity in this group to be notably enriched, approximately 1 in 28, compared to 1 in 150 iEuropean journal of neurologye70206https://www.ebi.ac.uk/biostudies/studies/S-EPMC12090362biostudies-literatureHigh Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.PMC12090362Caremani LGrigioni GOmbrone DTramacere LGovoni ARinaldi Mla Marca GMorrone ACaciotti AMarin FRamat SMei DGuerrini RPaoli AFalliano SFeo FFerri LProcopio EfalseHigh Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.<h4>Background and purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>We found GALC heterozygosity in this group to be notably enriched, approximately 1 in 28, compared to 1 in 150 i2025-01-01T00:00:00Z2025 May2026-06-01T07:53:40.256Z2026-04-08T10:46:37.653ZS-EPMC120903624039186610.1111/ene.70206