A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
نویسندگان
چکیده
Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations. Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson’s disease (PD) risk. Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA). We used the non-motor symptoms scale (NMSS) and Parkinson’s disease questionairre (PDQ-39) to quantify NMS in PD-GBA. The age related PD risk in heterozygous glucocerebrosidase carriers has been reported in familial PD. Here, we calculate PD risk in obligate carrier relatives (parents) of Type I GD patients.
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