De Michele G, Filla A, Volpe G, De Marco V, Gogliettino A, Ambrosio G, Marconi R, Castellano A E, Campanella G
Department of Neurology, Federico II University, Naples, Italy.
Mov Disord. 1996 Jan;11(1):17-23. doi: 10.1002/mds.870110105.
To clarify the role of heredity and of some environment risk factors in the etiology of idiopathic Parkinson's disease, we performed a case-control study in two regions of southern Italy, Campania and Molise. We selected two controls for each parkinsonian patient, the patient's spouse and a sex- and age-matched neurological control. One hundred sixteen consecutive outpatients with Parkinson's disease (77 men, 39 women; mean age +/- SD = 62.5 +/- 9.9) and the same number of spouses and neurological controls were interviewed about five environmental risk factors (cigarette smoking, well-water drinking, head trauma with loss of consciousness, strict diets, general anesthesia) and two genetic risk factors (family history of Parkinson's disease or of essential tremor). Well-water drinking and family history of Parkinson's disease or essential tremor showed a positive association with Parkinson's disease; smoking showed a negative association. The most relevant risk factor was history of familial Parkinson's disease (odds ratio = 14.6; 95% confidence interval = 7.2 - 29.6); 33% of our patients had at least one affected relative. We also showed a unilateral distribution of ancestral secondary cases on the paternal or on the maternal side, which suggests a dominant inheritance. Clinical and epidemiologic features of cases with familial Parkinson's disease showed no peculiarity. The study suggests a strong role of the genetic factors in the etiology of Parkinson's disease.
为阐明遗传因素及某些环境危险因素在特发性帕金森病病因学中的作用,我们在意大利南部的坎帕尼亚和莫利塞两个地区开展了一项病例对照研究。我们为每位帕金森病患者选取了两名对照,即患者的配偶以及一名性别和年龄匹配的神经科对照。我们就五个环境危险因素(吸烟、饮用井水、伴有意识丧失的头部外伤、严格节食、全身麻醉)和两个遗传危险因素(帕金森病或特发性震颤家族史)对116例连续的帕金森病门诊患者(77名男性,39名女性;平均年龄±标准差 = 62.5±9.9)以及相同数量的配偶和神经科对照进行了访谈。饮用井水以及帕金森病或特发性震颤家族史与帕金森病呈正相关;吸烟呈负相关。最相关的危险因素是家族性帕金森病病史(比值比 = 14.6;95%置信区间 = 7.2 - 29.6);我们的患者中有33%至少有一名患病亲属。我们还发现家族性帕金森病患者的父系或母系家族中二级病例呈单侧分布,这提示为显性遗传。家族性帕金森病患者的临床和流行病学特征并无特殊之处。该研究表明遗传因素在帕金森病病因学中起重要作用。