ReviewJournal of neurology, neurosurgery, and psychiatry1997
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
Review in Journal of neurology, neurosurgery, and psychiatry, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 163 citations in OpenAlex.
- Pooled it
- Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil".Journal of neurology, neurosurgery, and psychiatry · 1999Trial
- An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy.International journal of molecular sciences · 2025Review
- Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis.Orphanet journal of rare diseases · 2025Article
- Review
- Nutritional Counseling and Mediterranean Diet in Adrenoleukodystrophy: A Real-Life Experience.Nutrients · 2024Article
- Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.Internal medicine (Tokyo, Japan) · 2024Article
- Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.Annals of neurology · 2024Article
- Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular Mechanisms.Journal of biotechnology and biomedicine · 2024Article
- Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.International journal of neonatal screening · 2022Article
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.The application of clinical genetics · 2022Review
- Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.World journal of biological chemistry · 2020Review
- Article
- Article
- Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.Journal of inherited metabolic disease · 2020Article
- Asymptomatic adrenoleukodystrophy in elderly males.Journal of neurology · 2020Article
- A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.Brain and behavior · 2019Article
- Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy.BMC neurology · 2019Article
- An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.Reviews in endocrine & metabolic disorders · 2018Review
- Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.