X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy
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Within 10-15 years of AMN, motor disability of the legs becomes severe, whereas arm and hand deficits remain mild.
“Within 10–15 years, motor disability of the legs becomes severe, whereas arm and hand deficits remain mild [53,54].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [54]
All cases of translation initiation mutations in ABCD1 reported to date have presented with the AMN phenotype and none with CALD.
“Indeed, all cases of translation initiation mutations in ABCD1 reported to date have presented with the AMN phenotype and none with CALD.35,79,80”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [79]
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Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Engelen, M., van der Kooi, A. J., Kemp, S., Wanders, R. J. A., Sistermans, E. A., Waterham, H. R., Koelman, J. T. M., van Geel, B. M., & de Visser, M.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Venue
- Journal of the Peripheral Nervous System
- Publisher
- Wiley
- Published
- 2011-12
- Volume
- 16
- Issue
- 4
- Pages
- 353-355
- ISSN
- 1085-9489 (ISSN-L)
- OpenAlex
- W2095029865
- Cited by
- 12
- References
- 0
- Citations by year
- 2025: 3 · 2022: 1 · 2020: 1 · 2019: 1 · 2016: 3 · 2015: 2 · 2012: 1
- FWCI
- 0.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of the Peripheral Nervous System (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- ABCD1, missense mutations, start codon, demyelinating neuropathy, novel mutations, adrenoleukodystrophy
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Demyelinating Diseases, Fluorescent Antibody Technique, Humans, Male, Blotting, Western, Codon, Initiator, ATP-Binding Cassette Transporters, Mutation, Missense
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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