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Article

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.

Neurogenetics - 1 May 2014

Siri Laura, Rossi Andrea, Lanza Federica, Mazzotti Raffaella, Costa Anna, Stroppiano Marina, Gaiero Alberto, Cohen Amnon, Biancheri Roberta, Filocamo Mirella

Abstract excerpt

Prosaposin (PSAP) gene mutations, affecting saposin B (Sap-B) domain, cause a rare metachromatic leukodystrophy (MLD) variant in which arylsulfatase A (ARSA) activity is normal. To date, only 10 different PSAP mutations have been associated with a total of 18 unrelated MLD patients worldwide. In this study, we report for the first time a family with Moroccan origins in which the proband, presenting with a...

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Source

Identifiers

PMID: 24478108
DOI: 10.1007/s10048-014-0390-4

Genes

PSAP
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.

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