Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PD
Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PD
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DOI：
10.1212/wnl.61.7.931
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发表时间：
2003-10-14
期刊：
影响因子：
9.9
通讯作者：
Marder, K
中科院分区：
文献类型：
--
作者：
Louis, ED;Levy, G;Marder, K
背景：帕金森病（PD）患者亲属的动作性震颤可能比对照组亲属更常见。这种震颤可能代表轻度PD或原发性震颤。在研究PD的遗传学时，对PD患者家庭中这种情况的风险进行估计是很重要的。目的：确定震颤显性PD（TD- PD）和姿势不稳定步态障碍PD（PIGD-PD）先证者的一级亲属与对照先证者的一级亲属相比发生动作性震颤的风险。方法：PD和对照先证者参与PD的家族聚集性研究。从一个或多个线人的报告中确定了他们亲属中存在的动作震颤。排除符合PD诊断标准的亲属。考克斯比例风险模型校正了亲属的性别、教育、种族和生命状态（死亡与存活），用于评估PD先证者一级亲属与对照先证者一级亲属发生动作性震颤的相对风险（RR）。结果：共有487名PD先证者，409名对照先证者和5，563名亲属。TD- PD先证者亲属的动作性震颤风险高于对照先证者亲属（RR = 2.14; 95%CI = 1.53至2.98），但PIGD-PD先证者亲属的动作性震颤风险高于对照先证者亲属（RR = 1.81; 95%CI = 0.66至5.02）。结论：PD先证者的亲属发生动作性震颤的风险增加，尤其是当他们患有TD- PD时。这些亲属的震颤是否代表原发性震颤或PD的孤立表现需要进一步研究。
Background: Action tremor may be more prevalent in relatives of patients with Parkinson's disease (PD) than in relatives of control subjects. This tremor could represent mild PD or essential tremor. An estimate of the risk of this condition in families of patients with PD is important when studying the genetics of PD. Objectives: To determine the risk of action tremor in first-degree relatives of probands with tremor-dominant PD (TD- PD) and postural instability gait disorder PD (PIGD-PD) compared with first-degree relatives of control probands. Methods: PD and control probands participated in a familial aggregation study of PD. The presence of action tremor in their relatives was ascertained from reports of one or more informants. Relatives who met diagnostic criteria for PD were excluded. Cox proportional hazards models adjusting for gender, education, race, and vital status (dead vs alive) of the relatives were used to assess the relative risk (RR) of action tremor in first-degree relatives of PD probands vs first-degree relatives of control probands. Results: There were 487 PD probands, 409 control probands, and 5,563 relatives. The risk of action tremor was higher in the relatives of TD- PD probands than in the relatives of control probands (RR = 2.14; 95% CI = 1.53 to 2.98) but not in the relatives of PIGD-PD probands compared with the relatives of control probands (RR = 1.81; 95% CI = 0.66 to 5.02). Conclusion: The risk of action tremor was increased in the relatives of PD probands, particularly when they had TD- PD. Whether the tremor in these relatives represents essential tremor or an isolated manifestation of PD requires further investigation.