Results 11 to 20 of about 11,007 (197)
, 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 +5 more sources
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 +2 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
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
Restoring Immunological Tolerance via Dendritic Cells in Rheumatoid Arthritis. [PDF]
Eur J ImmunolThis review examines the failure of peripheral immune tolerance as the initiating factor in rheumatoid arthritis (RA), focusing on the role of dendritic cells. It discusses strategies to convert these cells from immunogenic to tolerogenic states, while also exploring emerging research on the anatomical sites where this critical loss of tolerance occurs.
Costello H, Woodcock A, Canavan M.
europepmc +2 more sources
Leveraging the Positive Deviance Approach to Drive Behavior Change in Noncommunicable Diseases: A Scoping Review. [PDF]
Public Health ChallPositive deviants are individuals or groups who demonstrate unexpectedly positive outcomes in contexts where negative outcomes are the norm. In this study, positive deviants exhibited health‐promoting behaviors related to NCD risk factors. The use of these strategies led to positive health outcomes, which merit further exploration and integration into ...
Bouaddi O +9 more
europepmc +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
Molecular Therapy: Methods & Clinical Development, 2021 Recent advances in adeno-associated viral (AAV) capsid variants with novel oligotropism require validation in models of disease in order to be viable candidates for white matter disease gene therapy.
Jeremy S. Francis +7 more
doaj +1 more source
Journal of the Belgian Society of Radiology, 2021 Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog +2 more
doaj +1 more source
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
core +14 more sources