Article
Leukodystrophies with astrocytic dysfunction.
Handbook of clinical neurology - 1 Jan 2013
Rodriguez Diana
Abstract excerpt
Astrocytic dysfunctions have been recently identified in four leukosdystrophies without peripheral nervous system myelin involvement. Alexander disease, the first primary genetic astrocytic disorder identified, is due to dominant GFAP mutations. The presence of Rosenthal fibers throughout the CNS is the pathological hallmark of this disease. Neurological degradation, megalencephaly, and typical MRI pattern are...
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