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Article

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Neurogenetics - 1 Oct 2020

Beerepoot Shanice, van Dooren Silvy J M, Salomons Gajja S, Boelens Jaap Jan, Jacobs Edwin H, van der Knaap Marjo S, van Kuilenburg André B P, Wolf Nicole I

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA). Genetic analysis of the ARSA gene is important in MLD diagnosis and screening of family members. In addition, more information on genotype prevalence will help interpreting MLD population differences between countries. In this study, we...

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Identifiers

PMID: 32632536
DOI: 10.1007/s10048-020-00621-6
PMCID: PMC7476914

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Source receipt: pubmed, retrieved 7 Sept 2026.

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