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Article

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

American journal of human genetics - 1 Jan 1995

Heinisch U, Zlotogora J, Kafert S, Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000. Metachromatic leukodystrophy was found to be more frequent among Arabs living in two restricted areas in Israel. Ten families with affected children have been found, three in the Jerusalem region and seven in a small area in lower...

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Identifiers

PMID: 7825603
PMCID: PMC1801341

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

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Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.PMID 7825603Read ↗

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

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Late infantile metachromatic leukodystrophy in Israel.Semantic proximity Read ↗

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

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