Parkinsonism in type I Gaucher's disease

The majority of patients with type I Gaucher's disease never develop neurological signs or symptoms. However, several case reports of Parkinson's disease associated with type I Gaucher's disease have been published, suggesting a genetic link between the two diseases. Hence, detailed clinical investigations are required when the two diseases occur simultaneously, in order to determine whether this is coincidental or whether a true association is present. We present a Japanese man in whom parkinsonism was associated with type I Gaucher's disease. Findings of brain positron tomography (PET) and metaiodobenzylguanidine (MIBG) cardiac scintigraphy are presented.