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Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable… Click to show full abstract
Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%–30%), depends on the population studied, and has only been assessed in Gaucher disease or familial PD. The aim of this study was to assess the penetrance of glucocerebrosidase mutations in PD in unselected PD patients.
Keywords:
penetrance glucocerebrosidase;
glucocerebrosidase;
study;
disease;
parkinson disease
Journal Title: Movement Disorders
Year Published: 2020
Link to full text (if available)
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Journal Title: Movement Disorders
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!