Number of the records: 1
Alexandrova choroba
Record number d038261 Date 06.06.2025 Type M - MESH Topical term Alexandrova choroba Other term Slovak (Pseudonym) Alexanderova choroba
See also (Later heading) proteín gliový kyslý fibrilárny
(Skutočné meno) proteín gliový kyslý fibrilárny
UDC C10.228.140.163.100.362.312C10.228.140.695.625.312C10.314.400.312C10.574.500.024C16.320.400.024C16.320.565.189.362.312C18.452.132.100.362.312C18.452.648.189.362.312 Note Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance. subject heading
Number of the records: 1