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Cited by 664Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

The DOI matches its Crossref record; 98 of the 99 references it cites were found in a registry or an index.

X-linked adrenoleukodystrophy

Moser, Hugo W, Mahmood, Asif, Raymond, Gerald V·2007·Nature Clinical Practice Neurology
DOI 10.1038/ncpneuro0421
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Abstract

X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. These phenotypes are frequently misdiagnosed, respectively, as attention-deficit hyperactivity disorder (ADHD), multiple sclerosis, or idiopathic Addison disease. Approximately 50% of female carriers develop a spastic paraparesis secondary to myelopathic changes similar to adrenomyeloneuropathy. Assays of very long chain fatty acids in plasma, cultured chorion villus cells and amniocytes, and mutation analysis permit presymptomatic and prenatal diagnosis, as well as carrier identification. The timely use of these assays is essential for genetic counseling and therapy. Early diagnosis and treatment can prevent overt Addison disease, and significantly reduce the frequency of the severe childhood cerebral phenotype. A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD.

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Crossref · 10.1038/ncpneuro0421

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Research works printed but not linked: 2

  1. Koehler W and Sokolowski P (2005) Clinical phenotypes, diagnosis and treatment of adulthood X-linked adrenoleukodystrophy. In Understanding and Treating Adrenoleukodystrophy. Present State and Future Perspectives, 28–60 (Eds Berger J et al.) SPS Verlagsgessellschaft: Heilbronn
  2. Mahmood A et al. (2005) Evaluating survival in nontransplanted boys with the cerebral phenotype of X-linked adrenoleukodystrophy [abstract]. Ann Neurol 58 (Suppl 9): 52a

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Metadata

Authors
Moser, H. W., Mahmood, A., & Raymond, G. V.
Affiliations
Kennedy Krieger Institute (US)
Corresponding author
Raymond, Gerald V
ORCID
Raymond, Gerald V
Venue
Nature Clinical Practice Neurology
Publisher
Springer Science and Business Media LLC
Published
2007-03
Volume
3
Issue
3
Pages
140-151
ISSN
  • 1745-834X (ISSN-L)
  • 1745-8358
DOI
10.1038/ncpneuro0421
OpenAlex
W2222090074
Cited by
663
References
99
Citations by year
2026: 15 · 2025: 20 · 2024: 26 · 2023: 22 · 2022: 20 · 2021: 21 · 2020: 28 · 2019: 17 · 2018: 23 · 2017: 24 · 2016: 27 · 2015: 21 · 2014: 39 · 2013: 28 · 2012: 39
FWCI
5.72
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Nature Clinical Practice Neurology (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Johns Hopkins University
  • National Institutes of Health
  • U.S. Public Health Service (M0-1-R00052)
  • National Center for Research Resources
  • NIH Clinical Center
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039276, HD-10981, HD39276, P01HD010981)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
X-linked adrenoleukodystrophy, ABCD1 gene, very long chain fatty acids, peroxisomal membrane proteins, ABC transporters, adrenomyeloneuropathy, Addison's disease, newborn screening, prenatal diagnosis, carrier identification, Lorenzo's oil, genetic counseling, misdiagnosis
MeSH terms
Adrenoleukodystrophy, Drug Combinations, Erucic Acids, Humans, Magnetic Resonance Imaging, Phenotype, Triolein, Hematopoietic Stem Cell Transplantation

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