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Article

Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.

Developmental medicine and child neurology - 1 May 2006

Anlar Banu, Waye John S, Eng Barry, Oguz Kader Karli

Abstract excerpt

A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of 6 years. The other patient presented at the age of 5 years with acute hemiparesis, which was diagnosed as acute...

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Source

Identifiers

PMID: 16608548
DOI: 10.1017/S001216220600082X

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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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