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Article

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.

Medicine - 19 Apr 2024

Liu Jinxin, Wang Xin, Huang Di, Qi Yuna, Xu Lei, Shao Yankun

Abstract excerpt

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and...

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Share to Adrenal Insufficiency
Share to Adrenoleukodystrophy
Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatty Acids, Nonesterified

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Identifiers

PMID: 38640304
DOI: 10.1097/MD.0000000000037874
PMCID: PMC11029984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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