Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
{"title":"Parkinson disease in Gaucher disease.","authors":"Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio","doi":"10.1186/s40734-017-0054-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (<i>GBA</i>) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.</p><p><strong>Case presentation: </strong>We report two patients with GD that developed PD at different disease stages.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"4 ","pages":"7"},"PeriodicalIF":0.0000,"publicationDate":"2017-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-017-0054-2","citationCount":"12","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Movement Disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s40734-017-0054-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2017/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 12
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.