Alexander disease

Definition:

Alexander disease is a rare, but often fatal neurological disorder that has been divided into three subtypes based on the age of onset: the infantile, juvenile and adult forms. The characteristic neuropathological feature of all forms of Alexander's disease is the presence of Rosenthal fibers which include protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins in astrocytes.

References:

[1]. Keiko Ishigaki, et al. TRH therapy in a patient with juvenile Alexander disease. Brain Dev. 2006 Nov;28(10):663-7. [Content Brief]

[2]. M Brenner, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001 Jan;27(1):117-20. [Content Brief]

[3]. Ming Der Perng, et al. The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. Am J Hum Genet. 2006 Aug;79(2):197-213. [Content Brief]

[4]. Rong Li, et al. GFAP mutations in Alexander disease. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. [Content Brief]

[5]. Roy A Quinlan, et al. GFAP and its role in Alexander disease. Exp Cell Res. 2007 Jun 10;313(10):2077-87. [Content Brief]

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