Type I Gaucher Disease and Parkinsonism: Prevalence of Parkinson Disease among Ashkenazi Family Members Who Are Carriers of Gaucher Disease.

Background: An association between patients suffering from Parkinson Disease (PD) and type I Gaucher disease (GD) was previously described (N Engl J Med, 2004). The goals of the present study were to report the frequency of Parkinson disease among the clinically unaffected family members of Ashkenazi GD patients who are obligate or known glucocerebrosidase (GBA) mutations carriers, and evaluate the clinical course in Type I GD carriers with concomitant manifestations of Parkinson disease (PD).

Methods: A cohort of forty three consecutive unrelated Ashkenazi Type I GD patients followed at the hematology department in the Rambam medical center in Haifa, Israel were evaluated for a family history of PD.

Results: Among forty-three families of Ashkenazi GD patients twelve had one or more relatives with PD. All these subjects were known obligate or identified as (GBA) mutation carriers for one of the common mutations among the Ashkenazi Jewish population namely N370S, 1604 or 84GG. The age of PD onset among GD family members carriers of GBA mutation ranged from 40 to 67 years with a mean of 53 years.

Conclusions: A high rate of relatives with PD was found among GD patient’s families. These results reinforce the association between GD carrier state and PD and suggest that glucocerebrosidase mutations might predispose to PD.