ReviewCurrent neurology and neuroscience reports2014
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Review in Current neurology and neuroscience reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06796920 (Spinal Cord Stimulation Surgery for Improving Lower Limb Motor Dysfunction in Adrenomyeloneuropathy), which is not on this map. Cited by 88 papers.
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.
Spinal Cord Stimulation Surgery for Improving Lower Limb Motor Dysfunction in Adrenomyeloneuropathy (AMN): A Prospective, Multicenter, Single-Arm, Self-Controlled Study.
Who cites it
88 citing papers in PubMed.
- Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System.Annals of the Child Neurology Society · 2026Article
- The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy.Molecular neurodegeneration · 2026Review
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype.Communications biology · 2026Article
- A Chinese X-Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation-A Case Report and Literature Review.Clinical case reports · 2026Article
- CSF and plasma neuro-biomarker dynamics after gene therapy for cerebral adrenoleukodystrophy.Molecular therapy. Advances · 2026Article
- Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.Brain : a journal of neurology · 2026Observational
- Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Lipid signature in X-ALD: a comparison between phenotypes.Frontiers in molecular biosciences · 2026Article
- Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps.Developmental medicine and child neurology · 2025Article
- Seizures in childhood cerebral adrenoleukodystrophy.Developmental medicine and child neurology · 2025Observational
- Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study.International journal of neonatal screening · 2025Article
- Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature.Molecular genetics and metabolism reports · 2025Review
- X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.Balkan journal of medical genetics : BJMG · 2025Article
- Home-Based Rehabilitation With Frenkel's Exercises for Adrenomyeloneuropathy: A Case Report.Cureus · 2025Article
- Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study.Orphanet journal of rare diseases · 2025Article
- Cystic Fibrosis Modulator Therapies: Bridging Insights from CF to other Membrane Protein Misfolding Diseases.Israel journal of chemistry · 2024Article
- International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.Journal of inherited metabolic disease · 2024Article
- Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.International journal of neonatal screening · 2024Article
- Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.Neurology. Genetics · 2024Review
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients also develop progressive myelopathy and peripheral neuropathy, but generally at a later age than males. They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy. This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options.
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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.