Gaucher disease has historically been classified into three types with class I not being considered to have neurological manifestations whereas types II and III have problems affecting the brain as well as the rest of the body. More recently it had become apparent that there can be some neurological aspects of type I disease notably an increased occurrence of Parkinsons disease (PD) and peripheral neuropathy. Parkinsons disease is a nervous system
condition which most commonly occurs in older people resulting in stiffness, difficulty in movement and a tremor. It has recently been noticed that some patients with Gaucher disease and also their carrier relatives have experienced PD. Genetic research has now suggested that the mutations in the gene causing Gaucher disease can also cause a pre-disposition to PD. This can occur in either patients (who have two abnormal Gaucher genes; one study suggests 20 times increased lifetime risk of PD) or otherwise healthy carriers (who have one abnormal gaucher gene). The reasons for this are not clear and the subject of much ongoing research. However it is important that only a small proportion of patients with a mutation in the GBA gene proportion will go on to develop PD. This suggests that there other factors also influence this association.
Further information is available by either contacting the Associaton or your Gaucher Centre