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Article

Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.

Archives of neurology - 1 Feb 2005

Marcão Ana M, Wiest Roland, Schindler Kaspar, Wiesmann Ulrich, Weis Joachim, Schroth Gerhard, Miranda Maria Clara S, Sturzenegger Matthias, Gieselmann Volkmar

Abstract excerpt

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect to the age of onset, affection of peripheral and central nervous systems, and progression. OBJECTIVES: To analyze mutations in the ARSA gene of a patient with adult-onset MLD with no signs of peripheral polyneuropathy and to...

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Source

Identifiers

PMID: 15710861
DOI: 10.1001/archneur.62.2.309

Genes

ARSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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