Results 21 to 30 of about 2,664 (184)
Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice. [PDF]
Ann Neurol, 2021 Canavan disease is caused by ASPA mutations that diminish brain aspartoacylase activity, and it is characterized by excessive brain storage of the aspartoacylase substrate, N-acetyl-l-aspartate (NAA), and by astroglial and intramyelinic vacuolation ...
Wang Y +7 more
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Iranian Journal of Child Neurology, 2014 How to Cite This Article: Shalbafan B. Alexander and Canavan Disease. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):20-21.
SHALBAFAN, Bita
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Canavan disease: An Arab scenario
Gene, 2015 The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with Jewish ancestry, and with low frequency in non-Jewish patients.
Zayed, Hatem
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Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. [PDF]
Acta Neuropathol, 2018 N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease—a fatal ...
von Jonquieres G +18 more
europepmc +4 more sources
Pathophysiology and Treatment of Canavan Disease. [PDF]
Neurochem Res, 2020 Pleasure D +7 more
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Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice. [PDF]
Ann Neurol, 2020 Marked elevation in the brain concentration of N-acetyl-L-aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA-cleaving enzyme aspartoacylase.
Hull V +7 more
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Molecular Therapy: Methods & Clinical Development, 2021 Recent advances in adeno-associated viral (AAV) capsid variants with novel oligotropism require validation in models of disease in order to be viable candidates for white matter disease gene therapy.
Jeremy S. Francis +7 more
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Journal of the Belgian Society of Radiology, 2021 Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog +2 more
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Disease Models & Mechanisms, 2014 Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli +6 more
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Journal of Neurology, Neurosurgery & Psychiatry, 2004 Myrtelle May Canavan (1879–1953) described a progressive familial spongy degeneration of the cerebral white matter.1 Since van Bogaert and Bertrand2,3 also described the condition, and established its nosology, it is known as Canavan’s disease or, van Bogaert–Bertrand2,4 syndrome. Myrtelle Canavan was an American neuropathologist, born 24 June 1879 in
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