Alexander Disease - Cause

Cause

Alexander disease is a genetic disorder affecting the central nervous system (midbrain and cerebellum). It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21. It is inherited in an Autosomal Dominant manner, such that the child of a parent with the disease has a 50/50 chance of inheriting the condition

Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath. The destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers. Rosenthal fibers appear not to be present in healthy people, but occur in specific diseases, like some forms of cancer. The Rosenthal fibers found in Alexander disease are not distributed in the same areas or as concentrated when compared to other diseases and disorders.