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戈谢病患者亲属中帕金森病发病率增加。

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease.

作者信息

Halperin Assaf, Elstein Deborah, Zimran Ari

机构信息

Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel.

出版信息

Blood Cells Mol Dis. 2006 May-Jun;36(3):426-8. doi: 10.1016/j.bcmd.2006.02.004. Epub 2006 May 2.

Abstract

In a previous study of 99 Ashkenazi Jewish patients with Parkinson disease from Israel who were tested for the six most common mutations for Gaucher disease, 31.3% had at least one Gaucher disease mutation, implying that carrier status per se my be a risk for Parkinson disease. The purpose of this survey was to ascertain the presence of Parkinson disease among Ashkenazi Jewish obligate carriers of Gaucher disease relative to its incidence in a comparable cohort of Ashkenazi Jews who are putatively non-carriers. There was no statistically significant difference in gender or age between the groups (n>100). Among patients, 27.3% reported having a relative with Parkinson disease while among the controls there was a reported 12.3% which was statistically significant (P=0.05). While based completely on subjective reports in a paper-base questionnaire, the results of this survey implicate a high rate of Parkinson disease among individuals with Gaucher disease mutations.

摘要

在之前一项对99名来自以色列的患帕金森病的德系犹太人患者进行的研究中,检测了他们是否携带戈谢病的六种最常见突变,结果发现31.3%的患者至少携带一种戈谢病突变,这意味着携带者本身可能是患帕金森病的一个风险因素。本次调查的目的是确定戈谢病的德系犹太义务携带者中帕金森病的存在情况,并将其与假定为非携带者的类似德系犹太人群体中的发病率进行比较。两组之间在性别或年龄上没有统计学上的显著差异(n>100)。在患者中,27.3%报告有亲属患帕金森病,而在对照组中,报告的这一比例为12.3%,具有统计学显著性(P=0.05)。虽然这项调查完全基于纸质问卷中的主观报告,但结果表明携带戈谢病突变的个体中帕金森病的发病率很高。

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