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Article

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

Journal of neurology - 1 Aug 2010

Guettsches Anne-Katrin, Kuechler Alma, Gal Andreas, Schmitz Werner, Tegenthoff Martin, Vorgerd Matthias

Abstract excerpt

Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. We report a family with two symptomatic carriers in subsequent generations who both suffer from symptoms of an AMN. In both patients, molecular genetic testing revealed a...

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Source

Identifiers

PMID: 20195870
DOI: 10.1007/s00415-010-5505-8

Genes

ABCD1
AMN

Variants

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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