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Article

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2004

Gallo S, Randi D, Bertelli M, Salviati Al, Pandolfo M

Abstract excerpt

Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy. Here we present an exceptional case with very late onset at 42 years of age and no clinical or neurophysiological sign of peripheral neuropathy. Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved...

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Source

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Identifiers

PMID: 15026521
DOI: 10.1136/jnnp.2003.017400
PMCID: PMC1739033

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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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