Pathophysiology and Treatment of Canavan Disease
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DOI: 10.1007/s11064-018-2693-6
Abstract: Canavan disease is a recessively inherited vacuolar leukodystrophy caused by ASPA mutations [1–3]. ASPA encodes aspartoacylase, an oligodendroglial enzyme required for cleavage of the abundant brain amino acid N-acetyl-l-aspartate (NAA) to acetate and l-aspartate [4].… read more here.
Keywords: treatment canavan; pathophysiology treatment; canavan; canavan disease ... See more keywords
Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature
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DOI: 10.1007/s40477-022-00667-2
Abstract: Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy, first described in 1931 (Canavan in Arch Neurol Psychiatry 25: 299–308, 1931). The clinical… read more here.
Keywords: spongiform leukodystrophy; canavan spongiform; canavan; report ... See more keywords