منابع مشابه
Canavan disease: CT and MR imaging of the brain.
Canavan disease (spongy degeneration of the brain) is a rare lethal neurodegenerative disorder of infancy; fewer than 100 cases have been reported. We describe a series of nine patients with enzymatic defects and clinical features consistent with Canavan disease; in two patients the disease was proved by biopsy. All patients were examined with CT and seven with MR. In every instance, both CT an...
متن کاملLithium 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 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 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...
متن کاملalexander and canavan disease
how to cite this article: shalbafan b. alexander and canavan disease. iran j child neurol. autumn 2014;8;4(suppl.1):20-21.
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ژورنال
عنوان ژورنال: Journal of Ultrasound
سال: 2014
ISSN: 1876-7931
DOI: 10.1007/s40477-014-0108-3