ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and sympt...

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Published inApplication of clinical genetics Vol. 15; pp. 111 - 123
Main Authors Volmrich, Alyssa M, Cuénant, Lauren M, Forghani, Irman, Hsieh, Sharon L, Shapiro, Lauren T
Format Journal Article
LanguageEnglish
Published Macclesfield Taylor & Francis Ltd 01.01.2022
Dove
Dove Medical Press
Subjects
adrenal insufficiency
Adrenoleukodystrophy
Asymptomatic
Bladder
Demyelination
Fertility
Genetic counseling
Hair
Medical prognosis
Medical screening
Mutation
Peripheral neuropathy
Phenotypes
Plasma
Review
Spastic paraparesis
Spasticity
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Summary:Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and symptoms of adrenal insufficiency and/or cerebral demyelination. Heterozygous females may be asymptomatic, but may develop a later-onset and more slowly progressive spastic paraparesis. In this review, we describe the clinical presentation of AMN, as well as its diagnosis and management. The role of rehabilitative therapies and options for management of spasticity are highlighted.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Review-1
ISSN:1178-704X
1178-704X
DOI:10.2147/TACG.S359479