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Article

Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025

Donald Aimée, Jones Simon A, Hughes Derralynn A, Church Heather J, Cox Timothy M

Abstract excerpt

PURPOSE: Type 3 Gaucher disease (GD), the chronic neuronopathic form caused by biallelic pathogenic variants in GBA1, is clinically heterogeneous, and there have been few comprehensive studies of its natural history and phenotypic diversity. The greatest unmet clinical need is for a disease-modifying treatment for the neurological manifestations; however, the inability to identify unifying features in the...

Read the complete abstract on PubMed

Topics

Humans
Gaucher Disease
Male
Female
Adult
Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Glucosylceramidase

Child

Middle Aged

Genotype

Phenotype

Child, Preschool

Young Adult

Cohort Studies

Prospective Studies

Source

Identifiers

PMID: 40542647
DOI: 10.1016/j.gim.2025.101502

Genes

GBA1

Provenance

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