Article
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Nature genetics - 1 Jan 2001
Brenner M, Johnson A B, Boespflug-Tanguy O, Rodriguez D, Goldman J E, Messing A
Abstract excerpt
Alexander disease is a rare disorder of the central nervous system of unknown etiology. Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. The pathological hallmark...
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