ReviewJournal of molecular neuroscience : MN2000
Canavan's spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease.
Review in Journal of molecular neuroscience : MN, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 52 citations in OpenAlex.
- Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1/2 trial.Nature medicine · 2025Trial
- Beyond Neurodegeneration: White Matter Vacuolation as a Primary Myelin Defect.International journal of molecular sciences · 2026Review
- Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.Nature communications · 2024Article
- Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.Cell & bioscience · 2024Review
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- Article
- The pathogenesis of, and pharmacological treatment for, Canavan disease.Drug discovery today · 2022Review
- Distribution and Localization of Mahogunin Ring Finger 1 in the Mouse Central Nervous System.International journal of molecular sciences · 2022Article
- Neither Excessive Nitric Oxide Accumulation nor Acute Hyperglycemia Affects theInternational journal of molecular sciences · 2020Article
- Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.Journal of inherited metabolic disease · 2015Article
- Brain ultrasound in Canavan disease.Journal of ultrasound · 2014Article
- Elevated citrate in pediatric astrocytomas with malignant progression.Neuro-oncology · 2011Article
- Abnormal regulation of TSG101 in mice with spongiform neurodegeneration.Biochimica et biophysica acta · 2009Article
- Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?Neurochemical research · 2009Article
- The ubiquitin-proteasome system in spongiform degenerative disorders.Biochimica et biophysica acta · 2008Review
- Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.Journal of inherited metabolic disease · 2008Review
- N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.Progress in neurobiology · 2007Review
- Brain compression without global neuronal loss in meningiomas: whole-brain proton MR spectroscopy report of 2 cases.AJNR. American journal of neuroradiology · 2005Article
- N-acetylaspartate in the vertebrate brain: metabolism and function.Neurochemical research · 2003Review
- Brain damage results in down-regulation of N-acetylaspartate as a neuronal osmolyte.Neuromolecular medicine · 2003Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Canavan disease (CD) is a globally distributed early-onset leukodystrophy. It is genetic in nature, and results from an autosomally inherited recessive trait that is characterized by loss of the axon's myelin sheath while leaving the axons intact, and spongiform degeneration especially in white matter. There is also a buildup of N-acetyl-L-aspartate (NAA) in brain, as well as NAA acidemia and NAA aciduria. The cause of the altered NAA metabolism has been traced to several mutations in the gene for the production of aspartoacylase, located on chromosome 17, which is the primary enzyme involved in the catabolic metabolism of NAA. In this review, an attempt is made to correlate the change in NAA metabolism that results from the genetic defects in CD with the processes involved in the development of the CD syndrome. In addition, present efforts to counter the results of the genetic defects in this disease are also considered.
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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.