GuidelineJournal of inherited metabolic disease2021
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Guideline in Journal of inherited metabolic disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 79 citations in OpenAlex.
- The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy.Molecular neurodegeneration · 2026Review
- Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism.Annals of clinical and translational neurology · 2026Article
- Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children.Annals of the Child Neurology Society · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy.Communications medicine · 2026Article
- Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.Neurology · 2026Article
- Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.Brain : a journal of neurology · 2026Observational
- The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.Journal of inherited metabolic disease · 2026Article
- Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.Brain communications · 2026Article
- Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked Adrenoleukodystrophy: A Multicenter Study.Neurology · 2025Article
- Seizures in childhood cerebral adrenoleukodystrophy.Developmental medicine and child neurology · 2025Observational
- Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps.Developmental medicine and child neurology · 2025Article
- Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study.International journal of neonatal screening · 2025Article
- Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.EClinicalMedicine · 2025Article
- Review
- Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.Bone marrow transplantation · 2025Article
- Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.Pediatric research · 2025Review
- Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.PloS one · 2025Article
- Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.Neuropsychiatric disease and treatment · 2025Article
Corrections and comments
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Authors and funding
23 authors at 12 institutions in 2 countries.
Funding
Abstract
backgroundAmong boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence-based guidelines detailing the neuroimaging surveillance of boys with neurologically asymptomatic adrenoleukodystrophy.
methodsTo establish the most frequent age and diagnostic neuroimaging modality for CCALD, we completed a meta-analysis of relevant studies published between January 1, 1970 and September 10, 2019. We used the consensus development conference method to incorporate the resulting data into guidelines to inform the timing and techniques for neuroimaging surveillance. Final guideline agreement was defined as >80% consensus.
resultsOne hundred twenty-three studies met inclusion criteria yielding 1285 patients. The overall mean age of CCALD diagnosis is 7.91 years old. The median age of CCALD diagnosis calculated from individual patient data is 7.0 years old (IQR: 6.0-9.5, n = 349). Ninety percent of patients were diagnosed between 3 and 12. Conventional MRI was most frequently reported, comprised most often of T2-weighted and contrast-enhanced T1-weighted MRI. The expert panel achieved 95.7% consensus on the following surveillance parameters: (a) Obtain an MRI between 12 and 18 months old. (b) Obtain a second MRI 1 year after baseline. (c) Between 3 and 12 years old, obtain a contrast-enhanced MRI every 6 months. (d) After 12 years, obtain an annual MRI.
conclusionBoys with adrenoleukodystrophy identified early in life should be monitored with serial brain MRIs during the period of highest risk for conversion to CCALD.
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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.