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Article

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.

Journal of neurology, neurosurgery, and psychiatry - 14 May 2026

Benzoni Chiara, Moscatelli Marco, Lanteri Paola, Pensato Viviana, Calò Chiara, Allievi Simona, Gellera Cinzia, Ardissone Anna, Moroni Isabella, Fenu Silvia, Cavalca Eleonora, Pareyson Davide, Salsano Ettore

Abstract excerpt

BACKGROUND: Adult adrenoleukodystrophy is a rare X linked disorder with heterogeneous phenotypes, complicating prognosis and trial design. We characterised phenotype and natural history in a large single-centre nationwide cohort and contextualised findings with prior reports. METHODS: We performed a combined retrospective-prospective observational study of adults (≥18 years) with confirmed ABCD1 variants...

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Identifiers

PMID: 41667276
DOI: 10.1136/jnnp-2025-337540
PMCID: PMC13217074

Genes

AMN
ABCD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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