Rescuing Canavan Disease: Support For The Astrocyte Hypothesis Of Canavan Disease Generation And A Possible Human Cure.
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چکیده
منابع مشابه
Lithium citrate for Canavan disease.
Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl aspartate levels in normal human subjects. Conversely, lithium significantly dec...
متن کاملCanavan disease: studies on the knockout mouse.
Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was enginee...
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how to cite this article: shalbafan b. alexander and canavan disease. iran j child neurol. autumn 2014;8;4(suppl.1):20-21.
متن کاملNon-genetic therapeutic approaches to Canavan disease.
Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment of psychomotor development and early death. The molecular cause of CD has been identified as being mutations of the gene encoding the enzyme aspartoacylase (ASPA) leading to its functional deficiency. The physiological ro...
متن کاملCT and MR imaging of Canavan disease.
Canavan (Van Bogaert-Bertrand) disease is a rare dysmyelinating disorder of the CNS that presents in the first year of life with spasticity, blindness, and megalencephaly [1 , 2] . The origin of this disease has not been definitely established, but it may relate to a deficiency in aspartoacyclase, an enzyme in the myelin synthesis pathway [3] . Without brain biopsy, it may be quite difficult to...
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ژورنال
عنوان ژورنال: Journal of Glycomics and Metabolism
سال: 2017
ISSN: 2572-5424
DOI: 10.14302/issn.2572-5424.jgm-17-1482