Adrenoleukodystrophy – a new mutation identified
Open accessAbstract
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phenotypes. The mutation affects the ABCD1 gene encoding a peroxisomal membrane protein. So far, its detailed function has not been clarified. However, it plays an essential role in the ethiopathogenesis of X-linked adrenoleukodystrophy. Its defect causes accumulation of the very long chain fatty acids in the tissues of the central and peripheral nervous system, adrenal glands and in the body fluids. PURPOSE: To review the clinical presentations and diagnostic issues in X-adrenoleukodystrophy diagnosed in the one affected family. METHODS: A case report. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene. RESULTS: A new "unique" mutation in the initiation codon in the first'exon of ABCD1 gene was identified. We present a phenotype description of a patient with this mutation. CONCLUSIONS: X-linked adrenoleukodystrophy is a disease with the incidence rate approximately 1:16,800. Detection of new mutations contributes to better understanding of this rare disease and makes the diagnostic more available and precise. The importance of an adequate diagnosis is justified not only by a different therapeutic approach, but also by the need of prenatal diagnostics and the need of genetic counselling in the affected families. As demonstrated in our case, it is necessary to consider this diagnosis also in the adult age, e.g. within the differential diagnosis of spastic paraparesis (Tab. 1, Fig. 4, Ref 23). Full Text (Free, PDF) www.bmrj.sk.
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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 [80]
The Discussion describes one patient with an ABCD1 initiation-codon mutation whose presentation was consistent with AMN. It does not establish that all reported initiation mutations presented as AMN or that none presented as CALD; it also notes possible early cerebral involvement in this patient. Page numbers are unavailable in our copy. (LLM, conf=0.86)
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Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
- Authors
- Vachalova, I., Chandoga, J., Petrovic, R., Copikova-Cudrakova, D., Sykora, M., & Traubner, P.
- Affiliations
- University Hospital Bratislava (SK)
- Venue
- Bratislava Medical Journal
- Published
- 2007-10
- Volume
- 108
- Issue
- 10-11
- Pages
- 462-466
- ISSN
- 0006-9248 (ISSN-L)
- 1336-0345
- OpenAlex
- W70154864
- Cited by
- 4
- References
- 2
- Citations by year
- 2022: 1 · 2016: 1 · 2015: 1 · 2013: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Bratislavské lekárske listy/Bratislava medical journal (publishedVersion, cc-by)
- PubMed (publishedVersion)
- PubMed
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, novel mutations, initiation codon mutation, very long chain fatty acids, peroxisomal disorders, peroxisomal membrane proteins, spastic paraparesis, prenatal diagnosis, genetic counseling, adult-onset diagnosis
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Adult, Humans, Male, Pedigree, ATP-Binding Cassette Transporters
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