What is aceruloplasminemia

A rare inherited (autoso-mal recessive) disorder of iron metabolism, discovered in 1995, that causes Parkinson-like symptoms. A mutation of the ceruloplasmin gene on chromosome 3 prevents cells from making a protein called ceruloplasmin, which removes iron from cells. This defect allows iron to accumulate in the cells of the basal ganglia. The accumulated iron blocks the functions of these cells, causing damage similar to, and the gait disturbances and tremors characteristic of, Parkinson’s disease. Aceruloplasminemia also results in accumulation of iron deposits in the pancreas (causing insulin-dependent diabetes), liver, and retina (causing vision problems and blindness). Although aceruloplasminemia is present from birth, it does not typically produce symptoms until early middle age (40 to 50 years). Treatment involves both trying to halt the iron accumulation with drugs called chelating agents, as well as treatment of motor symptoms with the same agents used for idiopathic Parkinson’s disease.

The discovery of aceruloplasminemia marked the first time researchers could link the symptoms of Parkinson’s disease to a genetic mutation and generated much excitement in the scientific community. Although this particular mutation is very rare and unlikely itself to be a cause of most cases of Parkinson’s disease, it raises hope that further research will reveal other genetic connections and lead to new treatment approaches.