The relationship between glucocerebrosidase mutations and Parkinson disease

@inproceedings{MigdalskaRichards2016TheRB,
  title={The relationship between glucocerebrosidase mutations and Parkinson disease},
  author={Anna Migdalska‐Richards and Anthony H V Schapira},
  booktitle={Journal of neurochemistry},
  year={2016}
}
Parkinson disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease, whereas Gaucher disease (GD) is the most frequent lysosomal storage disorder caused by homozygous mutations in the glucocerebrosidase (GBA1) gene. Increased risk of developing PD has been observed in both GD patients and carriers. It has been estimated that GBA1 mutations confer a 20- to 30-fold increased risk for the development of PD, and that at least 7-10% of PD patients have a GBA1 mutation… CONTINUE READING
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