Page last updated: 2024-10-20

thymine and Canavan Disease

thymine has been researched along with Canavan Disease in 1 studies

Canavan Disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Di Pietro, V1
Gambacurta, A1
Amorini, AM1
Finocchiaro, A1
D'Urso, S1
Ceccarelli, L1
Tavazzi, B1
Giardina, B1
Lazzarino, G1

Other Studies

1 other study available for thymine and Canavan Disease

ArticleYear
A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
    Clinical biochemistry, 2008, Volume: 41, Issue:7-8

    Topics: Amidohydrolases; Amino Acid Substitution; Canavan Disease; Child, Preschool; Cytosine; Enzyme Activa

2008