Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
{"title":"戈歇病中的帕金森病。","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":"{\"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}","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}
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.
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