| Description |
Alexander disease (AxD) is a fatal neurodegenerative disorder caused by dominant gain-of-function mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed almost exclusively in astrocytes.The defining pathological feature of AxD is the abundant presence in astrocytes of GFAP-containing protein aggregates, called Rosenthal fibers (RFs), especially in the subpial, perivascular, and subventricular regions of the central nervous system. |