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3 lip 2023 · Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is a rare, progressive, and fatal neurological hereditary disorder that begins in infancy. It is part of a group of genetic diseases referred to as leukodystrophies.
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.
Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4]
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.
24 wrz 2024 · Canavan disease is a rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age.
16 wrz 1999 · Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%).
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 .
