Rodriguez-Porcel Federico, Espay Alberto J, Carecchio Miryam
James J. and Joan A. Gardner Center for Parkinson disease and Movement Disorders, Department of Neurology and Rehabilitation Medicine, University of Cincinnati, 260 Stetson St., Suite 2300, Cincinnati, OH 45267-0525 USA.
Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
J Clin Mov Disord. 2017 May 23;4:7. doi: 10.1186/s40734-017-0054-2. eCollection 2017.
Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene () coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.
We report two patients with GD that developed PD at different disease stages.
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.
戈谢病（GD）是一种由于编码葡萄糖脑苷脂酶（GCase）的基因（）发生突变导致的先天性代谢缺陷，以常染色体隐性模式遗传。戈谢病患者患帕金森病（PD）的风险高达9%。
我们报告了两名在不同疾病阶段发生帕金森病的戈谢病患者。
我们回顾了关于帕金森病和戈谢病共存的文献，并推测症状的严重程度可能与所遗传的GBA突变类型有关。
