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首页> 外文期刊>Lancet Neurology >LRRK2 Gly2O19Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study
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LRRK2 Gly2O19Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study

机译：突尼斯的阿拉伯-柏柏尔人患者LRRK2 Gly2O19Ser的外显率：病例对照基因研究

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Background Several genes have been implicated in the pathogenesis of Parkinson's disease (PD). The aim of this study was to define the clinical symptoms and age-associated cumulative incidence of the most frequent mutation associated with PD, LRRK2 Gly2019Ser.Methods 238 patients with sporadic PD and 371 unrelated control participants from the Arab-Berber population were screened at the Institut National de Neurologie, Tunis. Symptoms of PD were assessed using the Hoehn and Yahr scale, the unified Parkinson's disease rating scale, and the Epworth scale. Genotyping for LRRK2 6055G-籄, which causes the Gly2019Ser mutation, was done in all participants, and the age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis.Findings 30% of patients with PD in this case-control sample were carriers of LRRK2 Gly2019Ser. The age of onset of symptoms and the clinical presentation of patients with LRRK2 Gly2019Ser were similar to those of patients with idiopathic PD. Carriers of LRRK2 Gly2019Ser were 22 6 times (95% CI10 2-50 1) more likely to be affected by PD than non-carriers. Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygotes] vs 75% [heterozygotes] vs 69% [non-carriers]; Cochran-Armitage trend test p=0 -0587). Disease severity, response to treatment, and disease duration were similar among LRRK2 Gly2019Ser homozygotes, heterozygotes, and non-carriers (p=0 ?85). Disease penetrance in LRRK2 Gly2019Ser carriers ranged from less than 20% in those younger than 50 years to greater than 80% at 70 years.Interpretation The LRRK2 Gly2019Ser mutation in patients with PD is a useful aid to diagnosis. LRRK2 Gly2019Ser penetrance can vary but in most carriers PD seems an inevitable consequence of ageing. LRRK2 Gly2019Ser considerably increases susceptibility to neuronal degeneration, although the process might be mediated by many triggers. By contrast, idiopathic PD is rare before 50 years and the prevalence only increases to 4% in the oldest members of the population.Funding GlaxoSmithKline; National Institutes of Health; and Mayo Foundation.
机译：背景技术若干基因与帕金森氏病（PD）的发病机制有关。这项研究的目的是确定与PD相关的最常见突变的临床症状和与年龄相关的累积发生率，LRRK2 Gly2019Ser。方法从238名来自阿拉伯伯伯人群的散发性PD患者和371名无关对照参与者中筛选了突尼斯国家神经科学研究所。使用Hoehn和Yahr量表，帕金森氏病统一评分量表和Epworth量表评估PD的症状。在所有参与者中进行了导致Gly2019Ser突变的LRRK2 6055G-籄的基因分型，并通过Kaplan-Meier分析计算了PD的特定年龄累积发生率。在该病例对照样本中，发现30％的PD患者是LRRK2 Gly2019Ser的运营商。 LRRK2 Gly2019Ser患者的症状发作年龄和临床表现与特发性PD患者相似。 LRRK2 Gly2019Ser的携带者受PD影响的可能性是非携带者的22 6倍（95％CI10 2-50 1）。震颤是LRRK2 Gly2019Ser携带者的主要症状（92％[纯合子] vs 75％[杂合子] vs 69％[非携带者; Cochran-Armitage趋势检验p = 0 -0587）。 LRRK2 Gly2019Ser纯合子，杂合子和非携带者的疾病严重性，对治疗的反应和疾病持续时间相似（p = 0〜85）。 LRRK2 Gly2019Ser携带者的疾病渗透率范围从50岁以下的不到20％到70岁时的80％以上。解释PD患者的LRRK2 Gly2019Ser突变对诊断很有帮助。 LRRK2 Gly2019Ser的外在表现可能会有所不同，但在大多数运营商中，PD似乎是衰老的必然结果。 LRRK2 Gly2019Ser大大增加了神经元变性的易感性，尽管该过程可能由许多触发因素介导。相比之下，特发性PD在50岁之前很少见，在人口中最老的成员中患病率仅增加到4％。国立卫生研究院;和梅奥基金会。

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