Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration, abbreviated PKAN and formerly called Hallervorden-Spatz syndrome, is a genetic degenerative disease of the brain. It can lead to parkinsonism, dystonia and dementia and ultimately to death, and the neurodegeneration is accompanied by iron that progressively builds up in the brain. The disease results from loss of function of the enzyme PANK2 through mutations inherited from both parents, following autosomal recessive inheritance. That enzyme performs the first step in the pathway that converts vitamin B5 into coenzyme A. According to the Wikipedia lead no treatment currently modifies the course of the disease, although some medications and therapies can ease symptoms and research into treatments is active. This entry is a record of what is held and is not medical advice.