ArticleAnnals of clinical and translational neurology2015
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
Article in Annals of clinical and translational neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 3 of them syntheses that pooled it.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 3 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Cognitive and intellectual functioning in leukodystrophy patients: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy.Clinical neuroradiology · 2026Article
- Neuroradiological patterns and prognostic implications in type I Alexander disease.Molecular genetics and metabolism · 2026Article
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 2026Article
- Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.NeuroImage. Clinical · 2026Article
- Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.Neurology · 2025Review
- Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.Molecular syndromology · 2025Article
- Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.Neuropediatrics · 2023Article
- Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.Annals of clinical and translational neurology · 2023Article
- Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy.Annals of clinical and translational neurology · 2022Article
- Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).Orphanet journal of rare diseases · 2022Article
- T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.Clinical neuroradiology · 2021Article
- A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.AJNR. American journal of neuroradiology · 2021Article
- Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.Journal of neurodevelopmental disorders · 2019Review
- Diffusion tensor imaging in metachromatic leukodystrophy.Journal of neurology · 2018Article
- Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy.Annals of clinical and translational neurology · 2017Article
- Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease).AJNR. American journal of neuroradiology · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMetachromatic leukodystrophy (MLD) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective MRI study investigated the extent of cortical involvement at time of diagnosis, and clinical correlates to both conventional and regional volumetric measures of brain involvement.
methods3D-T1-weighted MRI scans were used to determine cortical thickness and surface-based cerebral cortical gray matter (GM) and cerebral white matter (WM) volume (GMV and WMV), WM lesions, thalamus, and cerebellum. MRI-MLD severity scores were obtained from FLAIR images. Associations between clinical and imaging data were examined using correlation coefficients.
resultsTwenty patients with MLD (mean age 13.7 years, range 2-35) and 20 controls (mean age 13.9 years, range 2-40) were included. Compared with control subjects, late-infantile, and juvenile patients (n = 14) had significantly diminished cerebral cortical GMV and thalamus volume (P < 0.05), but did not differ in WMV and cortical thickness. Adult patients (n = 6) showed significantly reduced GMV, WMV and cortical thickness (all P < 0.05). Regional analysis showed statistically significant cortical thinning in the cingulate gyrus and most pronounced thinning with age in the frontal lobe of MLD patients. Intelligence quotient (IQ) correlated with MRI-MLD scores (r = -0.87, P < 0.001).
interpretationSignificant cerebral cortical GMV loss is already present in early stages of MLD. IQ correlates with WM severity scores and lesion volume, but not with volumetric measures. In adult presentations, there is more pronounced global atrophy with GMV and WMV loss and accelerated cortical thinning, most prominently in the cingulate gyrus and frontal lobes.
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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.