- Concept UI
- M0415670
- Scope 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.
- Terms
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Alexander Disease
Preferred Term
Term UI
T483481
Date02/26/2002
LexicalTag
EPO
ThesaurusID
-
Alexander's Disease
Term UI
T483482
Date02/26/2002
LexicalTag
EPO
ThesaurusID
NLM (2003)
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Demyelinogenic Leukodystrophy
Term UI
T840850
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Dysmyelinogenic Leukodystrophy
Term UI
T840851
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
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Fibrinoid Degeneration of Astrocytes
Term UI
T840852
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
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Leukodystrophy with Rosenthal Fibers
Term UI
T840853
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)