Alexanderova nemoc [Alexander Disease]

tematický
6
Termíny

Alexanderova choroba

 

Alexander's Disease
Demyelinogenic Leukodystrophy
Dysmyelinogenic Leukodystrophy
Fibrinoid Degeneration of Astrocytes
Leukodystrophy with Rosenthal Fibers

Perzistentní odkaz   https://www.medvik.cz/link/D038261
Definice

Vzácné onemocnění charakteru leukodystrofie (degenerace bílé hmoty mozkové) s progresivní megalocefalií. Vzniká v časném dětství, vede k demenci, epileptickým křečím a neurologickému postižení. Prognóza je špatná. (cit. Velký lékařský slovník online, 2018 http://lekarske.slovniky.cz)

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.

DUI
D038261 MeSH Prohlížeč
CUI
M0415670
Historická pozn.
2003
Veřejná pozn.
2003

C Nemoci
C10.228.140 nemoci mozku 1 177
C10.228.140.163 metabolické nemoci mozku 84
C10.228.140.163.100.362 dědičné demyelinizační nemoci CNS 11
C10.228.140.163.100.362.250 adrenoleukodystrofie 41
C10.228.140.163.100.362.312 Alexanderova nemoc 6
C10.228.140.163.100.362.375 syndrom Canavanové 9
C10.228.140.163.100.362.500 globoidní leukodystrofie 16
C10.228.140.163.100.362.550 metachromatická leukodystrofie 29
C10.228.140.163.100.362.775 Pelizaeusova-Merzbacherova nemoc 11
C10.228.140.695 leukoencefalopatie 11
C10.228.140.695.625.250 adrenoleukodystrofie 41
C10.228.140.695.625.312 Alexanderova nemoc 6
C10.228.140.695.625.375 syndrom Canavanové 9
C10.228.140.695.625.500 globoidní leukodystrofie 16
C10.228.140.695.625.550 metachromatická leukodystrofie 29
C10.228.140.695.625.775 Pelizaeusova-Merzbacherova nemoc 11
C10.314.400.250 adrenoleukodystrofie 41
C10.314.400.312 Alexanderova nemoc 6
C10.314.400.375 syndrom Canavanové 9
C10.314.400.500 globoidní leukodystrofie 16
C10.574.500.024 Alexanderova nemoc 6
C10.574.500.300 syndrom Canavanové 9
C10.574.500.362 Cockayneův syndrom 4
C10.574.500.497 Huntingtonova nemoc 322
C10.574.500.529 Laforova nemoc 1
C10.574.500.545 myotonia congenita 17
C10.574.500.547 myotonická dystrofie 94
C10.574.500.549 neurofibromatózy 28
C10.574.500.850 Tourettův syndrom 86
C10.574.500.865 tuberózní skleróza 141
C16.320.400.024 Alexanderova nemoc 6
C16.320.400.150 syndrom Canavanové 9
C16.320.400.200 Cockayneův syndrom 4
C16.320.400.430 Huntingtonova nemoc 322
C16.320.400.480 Laforova nemoc 1
C16.320.400.540 myotonia congenita 17
C16.320.400.542 myotonická dystrofie 94
C16.320.400.550 choreoakantocytóza 6
C16.320.400.560 neurofibromatózy 28
C16.320.400.820 Tourettův syndrom 86
C16.320.400.880 tuberózní skleróza 141
C16.320.565.189.362.250 adrenoleukodystrofie 41
C16.320.565.189.362.312 Alexanderova nemoc 6
C16.320.565.189.362.375 syndrom Canavanové 9
C16.320.565.189.362.500 globoidní leukodystrofie 16
C16.320.565.189.362.550 metachromatická leukodystrofie 29
C16.320.565.189.362.775 Pelizaeusova-Merzbacherova nemoc 11
C18.452 metabolické nemoci 1 196
C18.452.132.100.362.250 adrenoleukodystrofie 41
C18.452.132.100.362.312 Alexanderova nemoc 6
C18.452.132.100.362.375 syndrom Canavanové 9
C18.452.132.100.362.500 globoidní leukodystrofie 16
C18.452.132.100.362.550 metachromatická leukodystrofie 29
C18.452.132.100.362.775 Pelizaeusova-Merzbacherova nemoc 11
C18.452.648.189.362.250 adrenoleukodystrofie 41
C18.452.648.189.362.312 Alexanderova nemoc 6
C18.452.648.189.362.375 syndrom Canavanové 9
C18.452.648.189.362.500 globoidní leukodystrofie 16
C18.452.648.189.362.550 metachromatická leukodystrofie 29
C18.452.648.189.362.775 Pelizaeusova-Merzbacherova nemoc 11