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Article

Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2005

Dionne Annie, Brunet Denis, McCampbell Alexander, Dupré Nicolas

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis. CASE REPORT: We report a novel missense mutation in...

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Source

Identifiers

PMID: 16018167
DOI: 10.1017/s0317167100004091

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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