The relationship between glucocerebrosidase mutations and Parkinson disease

  title={The relationship between glucocerebrosidase mutations and Parkinson disease},
  author={Anna Migdalska‐Richards and Anthony H V Schapira},
  booktitle={Journal of neurochemistry},
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
Recent Discussions
This paper has been referenced on Twitter 15 times over the past 90 days. VIEW TWEETS


Publications citing this paper.
Showing 1-10 of 25 extracted citations


Publications referenced by this paper.
Showing 1-10 of 114 references

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson ’ s disease

  • X. Zhang, Q. BaoQ., S. ZhuangX.
  • J . Hum . Genet .
  • 2015

No evidence for substrate accumulation in Parkinson brains with GBA mutations

  • O. Goker-Alpan, R. Schiffmann, E. LamarcaM., L. NussbaumR., A. Mcinerney-Leo, E. Sidransky
  • Mov . Disord .
  • 2015

Similar Papers

Loading similar papers…