Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of neurology - 1 May 2025

Feo Federica, Tramacere Luciana, Ramat Silvia, Govoni Alessandra, Caremani Luca, Grigioni Giulia, Mei Davide, Falliano Silvia, Marin Francesca, Ferri Lorenzo, Paoli Antonella, Rinaldi Marina, la Marca Giancarlo, Ombrone Daniela, Procopio Elena, Guerrini Renzo, Morrone Amelia, Caciotti Anna

Abstract excerpt

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,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Galactosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Leukodystrophy, Globoid Cell

Share to Neurodegenerative Diseases

Share to Prevalence

Source

Open in PubMed Open full text

Identifiers

PMID: 40391866
DOI: 10.1111/ene.70206
PMCID: PMC12090362

Genes

GALC
GUSB
HEXB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.PMID 40391866Read ↗

<i>GALC</i>variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s diseaseSemantic proximity Read ↗

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.Semantic proximity Read ↗

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson’s diseaseSemantic proximity Read ↗

Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.Semantic proximity Read ↗

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.Semantic proximity Read ↗

GALC mutations in Chinese patients with late-onset Krabbe disease: a case reportSemantic proximity Read ↗

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Semantic proximity Read ↗

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.Semantic proximity Read ↗

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.Semantic proximity Read ↗

Heterozygote galactocerebrosidase (GALC) mutants have reduced remyelination and impaired myelin debris clearance following demyelinating injurySemantic proximity Read ↗

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.Semantic proximity Read ↗

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.