ReviewMedical sciences (Basel, Switzerland)2024
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Review in Medical sciences (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 8 citations in OpenAlex.
- Fulminant early-onset subacute sclerosing panencephalitis masquerading as leukodystrophy: a diagnostic challenge.Clinical and experimental pediatrics · 2026Article
- Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches.Brain and behavior · 2026Review
- Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.NeuroImage. Clinical · 2026Article
- When exome analysis is the key for your patient with cognitive decline: a case report.Dementia & neuropsychologia · 2026Article
- Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.Molecular syndromology · 2025Article
- Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report.Cureus · 2025Article
- Paraneoplastic Tumefactive Demyelination With Underlying Anaplastic Thyroid Cancer: A Case Report and Review of the Literature.Journal of central nervous system disease · 2025Article
- The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models.Frontiers in molecular neuroscience · 2025Review
- Exploring Overlap Syndromes: An Atypical Case of Multiple Sclerosis With Anti-Sjogren's Syndrome Type B Antibody.Journal of medical cases · 2024Article
- [Early onset leukoencephalopathy with vanishing white matter].Revista de neurologia · 2024Article
- PET imaging of microglia in Alzheimer's disease using copper-64 labeled TREM2 antibodies.Theranostics · 2024Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutières Syndrome.
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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.