Results 11 to 20 of about 2,664 (184)
Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease [PDF]
Frontiers in Molecular Neuroscience, 2017 Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present
Abhilash P. Appu +7 more
doaj +4 more sources
, 2005 Canavan disease (CD) is an autosomal recessive disorder, characterized by spongiform degeneration of the white matter of the brain. Aspartoacylase (ASPA) hydrolyses N-acetylaspartic acid to aspartate and acetate. Mutation of the gene results in enzyme deficiency to result CD.
Surendran, Sankar
core +4 more sources
A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report [PDF]
Journal of Pediatric ResearchGlu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa +7 more
doaj +2 more sources
Canavan Disease: Three case report
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia.
Faruk Incecik +3 more
doaj +1 more source
Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy [PDF]
Annals of Clinical and Translational NeurologyCanavan disease is a leukodystrophy caused by ASPA mutations that diminish oligodendroglial aspartoacylase activity, and is characterized by markedly elevated brain concentrations of the aspartoacylase substrate N‐acetyl‐l‐aspartate (NAA) and by ...
Vanessa L. Hull +8 more
doaj +2 more sources
Brain ultrasound in Canavan disease. [PDF]
J Ultrasound, 2014 Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia.
Drera B, Poggiani C.
europepmc +4 more sources
Loss of central auditory processing in a mouse model of Canavan disease. [PDF]
PLoS ONE, 2014 Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). ASPA-deficiency is characterized by severe psychomotor retardation, and excessive levels of the ASPA substrate N-acetylaspartate (NAA)
Georg von Jonquieres +5 more
doaj +2 more sources
A rare case of a long-lived patient with Canavan syndrome
Brain DisordersThis case report describes the clinical case of a patient with Canavan Syndrome, a condition characterized by high mortality in infancy, who reached the age of 32.
Giuseppe Liardi +8 more
doaj +2 more sources
The pathogenesis of, and pharmacological treatment for, Canavan disease. [PDF]
Drug Discov Today, 2022 Wei H +6 more
europepmc +2 more sources