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21 sty 2015 · Canavan’s disease (CD) is a fatal autosomal recessive pediatric leukodystrophy in which patients show severe neurodegeneration and typically die by the age of 10, though life expectancy in patients can be highly variable. Currently, there is no effective treatment for CD; however, gene therapy seems to be a feasible approach to combat the disease.
- The pathogenesis of, and pharmacological treatment for, Canavan disease
We also discuss therapeutic options that could be used for...
- Canavan Disease - StatPearls - NCBI Bookshelf
Summarize the treatment options for canavan disease. Explain...
- The pathogenesis of, and pharmacological treatment for, Canavan disease
We also discuss therapeutic options that could be used for the treatment of CD. Keywords: Aspartate N-acetyltransferase (Asp-NAT); Aspartoacylase (ASPA); Canavan disease (CD); N-acetylaspartate (NAA); NaDC3.
30 cze 2014 · The common symptoms of CD include head lag, macrocephaly, hypotonia, ataxia, inadequate visual tracking, poor sucking ability, and intellectual disabilities. 7, 8 In many cases, developmental delays and macrocephaly become noticeable after 6 months of age.
1 wrz 2022 · CD pathogenesis likely involves both NAA accumulation and acetyl-CoA deficiency. New pharmacological approaches for the treatment of CD are being pursued. Canavan disease (CD) is an inherited leukodystrophy resulting from mutations in the gene encoding aspartoacylase (ASPA).
8 gru 2018 · Canavan disease is a recessively inherited vacuolar leukodystrophy caused by ASPA mutations [1,2,3]. 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 .
3 lip 2023 · Summarize the treatment options for canavan disease. Explain the importance of improving care coordination among interprofessional team members to improve outcomes for patients affected by canavan disease.
The evolution of symptoms distinguishes Canavan disease from static encephalopathies, such as cerebral palsy. To enable early diagnosis first symptoms and clinical signs specific to CD need to be recognized.
