Parkinson disease in Gaucher disease.

Journal of Clinical Movement Disorders Pub Date : 2017-05-23 eCollection Date: 2017-01-01 DOI:10.1186/s40734-017-0054-2
Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
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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.

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戈歇病中的帕金森病。
背景:戈谢病(GD)是一种由糖脑苷酶(GCase)编码基因(GBA)突变引起的先天性代谢错误,以常染色体隐性遗传方式遗传。GD患者发展为PD的风险高达9%。病例介绍:我们报告两例GD患者在不同的疾病阶段发展为PD。结论:我们查阅了PD和GD共存的文献,推测症状的严重程度可能与遗传的GBA突变类型有关。
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