Article
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Neurology - 28 May 2002
Gorospe J R, Naidu S, Johnson A B, Puri V, Raymond G V, Jenkins S D, Pedersen R C, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap M S, Messing A, Brenner M, Hoffman E P
Abstract excerpt
BACKGROUND AND OBJECTIVE: Alexander disease is a slowly progressive CNS disorder that most commonly occurs in children. Until recently, the diagnosis could only be established by the histologic finding of Rosenthal fibers in brain specimens. Mutations in the glial fibrillary acidic protein (GFAP) gene have now been shown in a number of biopsy- or autopsy-proven patients with Alexander disease. A prospective study...
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