The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.
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DOI：
10.1016/j.bcmd.2010.10.006
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发表时间：
2011-01-15
期刊：
影响因子：
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通讯作者：
Weinreb NJ
中科院分区：
文献类型：
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作者：
Rosenbloom B;Balwani M;Bronstein JM;Kolodny E;Sathe S;Gwosdow AR;Taylor JS;Cole JA;Zimran A;Weinreb NJ
调查 1 型戈谢病 (GD1) 患者的帕金森病发病率，并描述受影响和未受影响患者的人口统计、基因型和戈谢病 (GD) 相关特征。研究类型：队列研究，采用年龄和性别匹配的巢式病例对照分析。计算事件发生率、标准化发病率和无事件生存率（Kaplan-Meier）。数据来源：国际戈谢协作组 (ICGG) 戈谢登记数据截至 2010 年 6 月。研究队列：有任何帕金森病报告的 GD1 患者。预配对照组：所有未报告帕金森病的GD1患者。匹配的研究队列由 68 名患有帕金森症的患者和 649 名没有帕金森症的患者组成。人口统计学和临床特征表明，与对照组相比，帕金森病患者的 GD 表型较轻。最常见的 GD1 基因型是 N370S/N370S（对照组为 39%；帕金森病患者为 46%）。帕金森病患者被诊断为 GD1 的平均年龄为 37 岁，而对照患者的平均年龄为 31 岁。所有 GD1 患者中帕金森病的标准化发病率比 2 个参考人群增加了约 6 至 17 倍。据报道，帕金森病发病的平均年龄为 57 岁，而普通人群的平均发病年龄为 60 岁（Lees、Hardy 和 Revesz，2009 年）。 GD1患者在70岁之前患帕金森症的概率为5%至7%，在80岁之前患帕金森症的概率为9%至12%。与两个参考人群相比，GD1 患者帕金森病的发病率显着增加。与单纯 GD1 患者相比，GD1 帕金森症患者的 GD 诊断中位年龄、开始治疗年龄和死亡年龄均晚。 GD1 型帕金森病患者的戈谢相关临床特征与单独 GD1 组相似或较轻。因此，常见 GD1 临床表现的严重程度似乎不能预测帕金森病的发作。
Investigate the incidence of Parkinsonism among patients with Gaucher disease type 1 (GD1) and describe demographics, genotypes, and Gaucher disease (GD)-related characteristics for affected and non-affected patients. Study type: Cohort study with age- and gender-matched nested case–control analysis. Calculation of event incidence, standardized morbidity ratio, and event-free survival (Kaplan–Meier). Data source: The International Collaborative Gaucher Group (ICGG) Gaucher Registry data as of June 2010. Study cohort: GD1 patients with any report of Parkinsonism. Pre-matching control group: All GD1 patients with no report of Parkinsonism. The matched study cohort comprised of 68 patients with reports of Parkinsonism and 649 patients without Parkinsonism. Demographic and clinical characteristics suggest a milder GD phenotype in patients with Parkinsonism compared to the control group. The most prevalent GD1 genotype was N370S/N370S (39% for controls; 46% for patients with Parkinsonism). Patients with Parkinsonism were diagnosed with GD1 at a mean age of 37 years compared to 31 years in control patients. The standardized morbidity ratio for the development of Parkinsonism among all GD1 patients indicated an approximately 6 to 17 fold increase over that of 2 reference populations. The mean age of reported Parkinsonism onset was 57 years compared to 60 years in the general population (Lees, Hardy, and Revesz, 2009). The probability that a patient with GD1 will develop Parkinsonism before age 70 years is 5 to 7% and 9 to 12% before age 80 years. The incidence of Parkinsonism among GD1 patients is significantly increased compared to two reference populations. GD1 patients with Parkinsonism have a later median age at GD diagnosis, later age at the start of treatment, and later age at death than patients with GD1 alone. The Gaucher-related clinical profile of GD1 patients with Parkinsonism is similar to or milder than the GD1 alone group. Therefore, severity of the common GD1 clinical manifestations does not appear to be predictive for the onset of Parkinsonism.