Parkinson disease in Gaucher disease.

ABSTRACT:

Background

Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.

Case presentation

We report two patients with GD that developed PD at different disease stages.

Conclusion

We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited.

SUBMITTER: Rodriguez-Porcel F 

PROVIDER: S-EPMC5440911 | biostudies-literature |

REPOSITORIES: biostudies-literature