Počet záznamov: 1
Alexandrova choroba
Č. záznamu d038261 Dátum 06.06.2025 Typ M - MESH Tematický termín Alexandrova choroba Iný termín Slovenčina (Pseudonym) Alexanderova choroba
Pozri tiež (Novšie záhlavie) proteín gliový kyslý fibrilárny
(Skutočné meno) proteín gliový kyslý fibrilárny
MDT 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 Poznámka 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. predmetové heslo
Počet záznamov: 1