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

Journal of Neurology Neurosurgery & Psychiatry 2026 Open access

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Authors: Chiara Benzoni, Marco Moscatelli, Paola Lanteri, Viviana Pensato, Chiara Calò, Simona Allievi, Cinzia Gellera, Anna Ardissone, Isabella Moroni, Silvia Fenu, Eleonora Cavalca, Davide Pareyson
+1 more Ettore Salsano
DOI: 10.1136/jnnp-2025-337540
Cited by: 0
References: 43

Abstract

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: variants evaluated at Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (January 2004-June 2023), with reassessments between July and December 2023. Clinical, genetic, biochemical, MRI and neurophysiological data were analysed. RESULTS: variants, including 11 novel mutations. Adrenomyeloneuropathy (AMN) predominated in males, with low mortality (

Fields of Study & Subjects

Metabolism and Genetic Disorders Hereditary Neurological Disorders Lysosomal Storage Disorders Research

Publication details

Journal / source
Journal of Neurology Neurosurgery & Psychiatry
Volume
97
Issue
6
Pages
483–492
Publication date
10 February 2026
Language
EN