Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy
Abstract
The occasion of the presentation of the eighth Gordon Holmes Lecture left me feeling both honoured and awed, as a result of my review of the Selected Papers of Gordon Holmes (Phillips CG: Selected Papers of Gordon Holmes, compiled and edited for the Guarantors of Brain. Oxford University Press, 1979), kindly presented to me by the sponsors of the meeting. This volume lists 174 publications produced over a 55-year period, and contains reprints of contributions to neuroanatomy, neuropathology, and to disorders that affected the adrenal cortex, the spinal cord, the cerebellum and the cerebral cortex. Yet I also feel a sense of sadness; the invitation to present the lecture came from the late Anita Harding who, such a short time before her illness, gave me personal guidance and encouragement. In this lecture I endeavour to follow the example of Gordon Holmes, namely the stepwise analysis of a clinical problem, first by observation of the patient, followed by the application of techniques that can clarify it, leading to new knowledge not only about the specific disorder, but also about the nervous system and human biology in general and, it is to be hoped, to more effective therapy.
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Approximately 50% of women heterozygous for X-ALD develop AMN-like symptoms in middle age or later.
“Approximately 50% of women heterozygous for X-ALD develop AMN-like symptoms in middle age or later.”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Moser, 1997
At least half of women heterozygous for X-ALD develop an AMN-like syndrome which can cause considerable disability in middle age or later in life.
“It is nevertheless important to estimate the frequency of women heterozygous for X-ALD because at least half of the heterozygous women develop an AMN-like syndrome which can cause considerable disability in middle age or later in life [Moser, 1997;Restuccia et al., 1997].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Moser, 1997
Cerebral involvement and adrenocortical insufficiency are rare in women heterozygous for X-ALD.
“Cerebral involvement and adrenocortical insufficiency are rare [Moser, 1997;Restuccia et al., 1997;el Deiry et al., 1997].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Moser, 1997
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Self-citationAdrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
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Self-citationAdrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
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Self-citationPlasmalogens participate in very-long-chain fatty acid-induced pathology
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The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria
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“ALD protein is an integral membrane protein localized in the peroxisomal membrane that plays a role in the transport of very long chain fatty acids that accumulate in the white matter of ALD patients [1,2].”
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- Authors
- Moser, H.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Moser, H.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-08-01
- Volume
- 120
- Issue
- 8
- Pages
- 1485-1508
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2147681614
- Cited by
- 478
- References
- 3
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 12 · 2023: 8 · 2022: 8 · 2021: 10 · 2020: 6 · 2019: 9 · 2018: 20 · 2017: 16 · 2016: 15 · 2015: 11 · 2014: 9 · 2013: 15 · 2012: 17
- FWCI
- 4.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (RR00722, RR-00052)
- National Center for Research Resources (RR 000 52, RR 00035)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-10981, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- adrenoleukodystrophy, phenotypes, genetics, pathogenesis, treatment, X-linked disorders, lysosomal storage disease, myelin lipids, adrenal cortex
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Child, Humans, Phenotype
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