Gfap Mutation and Astrocyte Dysfunction Lead to a Neurodegenerative Profile with Impaired Synaptic Plasticity and Cognitive Deficits in a Rat Model of Alexander Disease.

Abstract excerpt

Alexander disease (AxD) is a rare neurological disorder caused by dominant gain-of-function mutations in the gene for glial fibrillary acidic protein. Expression of mutant protein results in astrocyte dysfunction that ultimately leads to developmental delay, failure to thrive, and intellectual and motor impairment. The disease is typically fatal, and at present there are no preventative or effective treatments....

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