ArticleAJNR. American journal of neuroradiology2012
Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution.
Article in AJNR. American journal of neuroradiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.Molecular syndromology · 2025Article
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.Medical sciences (Basel, Switzerland) · 2024Review
- 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
- ClinicalNeuroradiology · 2022Review
- Neuroimaging Pearls from the MDS Congress Video Challenge. Part 2: Acquired Disorders.Movement disorders clinical practice · 2022Review
- The neurovascular unit in leukodystrophies: towards solving the puzzle.Fluids and barriers of the CNS · 2022Review
- Case report: A compound heterozygous mutations inFrontiers in neurology · 2022Article
- Pathology of the neurovascular unit in leukodystrophies.Acta neuropathologica communications · 2021Article
- Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.Molecular genetics and metabolism reports · 2020Article
- Diffusion tensor imaging in metachromatic leukodystrophy.Journal of neurology · 2018Article
- Identification of NovelInternational journal of genomics · 2018Article
- Central Precocious Puberty in a Child With Metachromatic Leukodystrophy.Frontiers in endocrinology · 2018Article
- In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Neurochemical research · 2015Review
- Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.Orphanet journal of rare diseases · 2015Article
- Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.Annals of clinical and translational neurology · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeThe prospect of new therapies in MLD stresses the need to refine the indications for treatment. The aim of this study was, therefore, to perform a detailed analysis of MRI brain lesions at diagnosis and follow-up, to better understand the natural history of MLD. MATERIAL AND
methodsThis retrospective case-control study (2005-2010) looked at 13 patients with MLD (2-5 years of age) with 28 MRIs (mean follow-up, 2 years), compared with 39 age- and sex-matched controls. All MRIs were evaluated qualitatively and semiquantitatively. The Student t test, Wilcoxon signed rank test, and Pearson correlation were used for statistical analysis (P < .05).
resultsIn addition to diffuse symmetric supratentorial WM T2 hyperintensities with a tigroid pattern (70%) and T2 hyperintensities in the CC (100%) and internal capsules (46%), we found significant GM abnormalities such as thalamic T2 hypointensity (92%), thalamic (23%, P < .05, EJ) and caudate nuclei (23%, P < .05, EJ) atrophy, and cerebellar atrophy without WM involvement (15%). The pattern of splenium involvement progression was misleading, with initially diffuse high signal intensity, which later became curvilinear before finally progressing to atrophy (23%, P < .05; EJ). This should not be mistaken for a disease regression. Spectroscopy confirmed a decrease in the NAA/Cr ratio, an increase in the Cho/Cr ratio and in myo-inositol, and a lactate resonance.
conclusionsThalamic changes may be a common finding in MLD, raising the prospect of primary GM lesions. This may prove important when evaluating the efficacy of new treatments.
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.