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Article

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

Journal of medical genetics - 1 Sept 1994

Zlotogora J, Furman-Shaharabani Y, Harris A, Barth M L, von Figura K, Gieselmann V

Abstract excerpt

Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a founder effect. All the patients were found to be homozygous for 459 + 1 G-->A, a mutation which destroys the...

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Identifiers

PMID: 7815434
DOI: 10.1136/jmg.31.9.672
PMCID: PMC1050074

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.PMID 7815434Read ↗

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Late infantile metachromatic leukodystrophy in Israel.Semantic proximity Read ↗

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.Semantic proximity Read ↗

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.Semantic proximity Read ↗

Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.Semantic proximity Read ↗

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.Semantic proximity Read ↗

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

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

Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.Semantic proximity Read ↗

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.Semantic proximity Read ↗

Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.Semantic proximity Read ↗

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