ArticleAJNR. American journal of neuroradiology2003
Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.
Article in AJNR. American journal of neuroradiology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance.Arquivos de neuro-psiquiatria · 2026Review
- Diffusion Tensor Imaging and Fiber Tractography Analysis in Patients with Pelizaeus-Merzbacher Disease.Noro psikiyatri arsivi · 2026Article
- Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.Frontiers in neuroscience · 2024Article
- Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.Brain communications · 2022Article
- Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging.Frontiers in neurology · 2021Review
- Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.Journal of translational genetics and genomics · 2020Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.Frontiers in neurology · 2018Review
- Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools.Korean journal of pediatrics · 2012Article
- Pelizaeus-Merzbacher disease in siblings.Journal of pediatric neurosciences · 2010Article
- N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.Progress in neurobiology · 2007Review
- PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.Neurogenetics · 2005Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
background and purposePelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD.
methodsThree boys with PMD (one with the severe connatal form and two with a more mild clinical phenotype [spastic paraplegia type 2]). and three age-matched healthy control subjects (age range, 2-7 years) underwent MR and MRS imaging. All imaging was performed at 1.5 T. For MRS imaging, oblique-axial sections (thickness, 15 mm; intersection gap, 2.5 mm) were recorded parallel to the anterior commissure-posterior commissure line (TR/TE/NEX, 2300/272/1) with lipid and water suppression. Ratios of metabolite peak areas were calculated, and spectra were bilaterally evaluated.
resultsDiffuse or focal reductions in N-acetylaspartate were observed in the affected white matter in all three cases. These reductions seemed to be consistent with axonal damage. In addition, mild increases in choline and creatine levels were observed; these may have been due to astrocytic changes.
conclusionProton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles.
Indexed as
Identifiers
13679292PMC7974002W1928608719What 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.