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Cited by 162Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchHereditary Neurological Disorders

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

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van Geel, B. M, Assies, J., Wanders, R. J A, Barth, P. G·1997·Journal of Neurology, Neurosurgery & Psychiatry
DOI 10.1136/jnnp.63.1.4PMC PMC2169642
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Abstract

X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in affected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the different phenotypes, and the diagnostic and therapeutic options are presented.

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Authors
van Geel, B. M., Assies, J., Wanders, R. J. A., & Barth, P. G.
Affiliations
Amsterdam UMC Location University of Amsterdam (NL)
ORCID
Venue
Journal of Neurology, Neurosurgery & Psychiatry
Publisher
BMJ
Published
1997-07-01
Volume
63
Issue
1
Pages
4-14
ISSN
0022-3050 (ISSN-L)
DOI
10.1136/jnnp.63.1.4
PMC
PMC2169642
OpenAlex
W2147636525
Cited by
162
References
10
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FWCI
1.58
Type
journal article
Language
en
Open access
Locations
  • Journal of Neurology Neurosurgery & Psychiatry (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UvA-DARE (University of Amsterdam) (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
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, peroxisomal disorders, very long chain fatty acids, brain demyelination, adrenomyeloneuropathy, childhood cerebral adrenoleukodystrophy, adrenal insufficiency, testicular insufficiency, prenatal diagnosis, genotype-phenotype correlation
MeSH terms
Adolescent, Adult, Aged, Child, Dietary Fats, Unsaturated, Drug Combinations, Erucic Acids, Fatty Acids, Female, Genotype, Humans, Male, Microbodies, Phenotype, Prenatal Diagnosis, Triolein, X Chromosome, Age of Onset, Peroxisomal Disorders

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.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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