{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["32(5)"],"submitter":["Feo F"],"funding":["Regione Toscana (Bando Salute 2018, DD15397"],"pubmed_abstract":["<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 i"],"journal":["European journal of neurology"],"pagination":["e70206"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12090362"],"repository":["biostudies-literature"],"pubmed_title":["High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions."],"pmcid":["PMC12090362"],"pubmed_authors":["Caremani L","Grigioni G","Ombrone D","Tramacere L","Govoni A","Rinaldi M","la Marca G","Morrone A","Caciotti A","Marin F","Ramat S","Mei D","Guerrini R","Paoli A","Falliano S","Feo F","Ferri L","Procopio E"],"additional_accession":[]},"is_claimable":false,"name":"High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.","description":"<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 i","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T07:53:40.256Z","creation":"2026-04-08T10:46:37.653Z"},"accession":"S-EPMC12090362","cross_references":{"pubmed":["40391866"],"doi":["10.1111/ene.70206"]}}