

Alexander's disease

From SNPedia

Alexander's disease, also known as fibrinoid leukodystrophy (as well as Alexander disease), is a progressive and fatal neurodegenerative disease. It is a rare genetic disorder primarily affecting infants and children, causing developmental delays and changes in physical characteristics.Wikipedia

Alexander's disease is a genetic disorder affecting the midbrain and cerebellum of the central nervous system, caused by mutations in the GFAP gene encoding glial fibrillary acidic protein. It is inherited in an autosomal dominant manner, such that the child of a parent with the disease has a 50% chance of inheriting the condition, if one parent carries a causal GFAP mutation. However, most cases arise de novo as the result of sporadic mutations.Wikipedia