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Article

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 15 Aug 2026

Barone Valentina, Borghi Annamaria, Vaisfeld Alessandro, Corona Giovanni, Galatolo Daniele, Tessa Alessandra, Santorelli Filippo, Stagni Silvia, Simonetti Luigi, Zini Andrea

Abstract excerpt

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired peroxisomal β-oxidation of very-long-chain fatty acids (VLCFAs). Adrenomyeloneuropathy (AMN) is a frequent adult phenotype characterized by progressive spastic paraparesis and axonal neuropathy. We report the first case of AMN associated with a...

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Identifiers

PMID: 42603216
DOI: 10.1007/s10072-026-09324-6

Genes

ABCD1
AMN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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