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Alexander disease

 

Autosomal dominant neurological disease.

Synopsis

-  Progressive macrocephaly
-  Hydrocephalus
-  Diffuse demyelination
-  Coarsened pattern of sulci and gyri
-  Presence of Rosenthal fibers (eosinophilic bodies near astrocyte filaments) in astrocytes
-  Presence of glial fibrillary acidic proteins (GFAP) in astrocytes
-  Elevated CSF protein

Etiology

-  germline mutations in GFAP protein

References

-  Li R, Messing A, Goldman JE, Brenner M. GFAP mutations in Alexander disease. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. PMID: #12175861#


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