Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Santander, Spain.
Mov Disord. 2011 Nov;26(13):2343-6. doi: 10.1002/mds.23965. Epub 2011 Sep 27.
The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of the G2019S mutation of the LRRK2 gene in a small region in northern Spain (Cantabria). The G2019S mutation was tested in 367 consecutive patients with PD attended as outpatients in a tertiary Hospital in Northern Spain, and 126 at-risk family members of probands were also investigated for G2019S mutation and disease status. The gene penetrance was estimated in terms of cumulative age-specific incidence of PD by the Kaplan-Meier method. Thirty-two PD patients (8.7%) carried the G2019S mutation. Penetrance estimation of the G2019S mutation was 2% at 50 years, 12% at 60 years, 26% at 70 years, and 47% at 80 years. The frequency of the G2019S mutation of the LRRK2 gene in PD patients from Cantabria is among the highest reported so far after North African Arabs and Ashkenazi Jews. At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD.
LRRK2 G2019S 突变在不同的帕金森病 (PD) 人群中的频率和外显率差异很大。这些信息对于临床目的和遗传咨询都是必不可少的。本研究的目的是评估 LRRK2 基因 G2019S 突变在西班牙北部一个小地区（坎塔布里亚）的患病率和外显率。在西班牙北部一家三级医院就诊的 367 名连续 PD 患者中检测了 G2019S 突变，126 名先证者的高危家族成员也接受了 G2019S 突变和疾病状态的检测。通过 Kaplan-Meier 方法估计基因外显率与年龄相关的累积 PD 发病率。32 名 PD 患者（8.7%）携带 G2019S 突变。G2019S 突变的外显率估计为 50 岁时为 2%，60 岁时为 12%，70 岁时为 26%，80 岁时为 47%。来自坎塔布里亚的 PD 患者 LRRK2 基因的 G2019S 突变频率在北非阿拉伯人和阿什肯纳兹犹太人之后是迄今为止报道的最高之一。到 80 岁时，只有一半的 G2019S 突变携带者表现出 PD 的运动症状。
