与富含亮氨酸重复激酶2（Lrrk2）相关的帕金森病是西班牙北部疾病的主要病因。
Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
作者信息
González-Fernández María C, Lezcano Elena, Ross Owen A, Gómez-Esteban Juan C, Gómez-Busto Fernando, Velasco Fernando, Alvarez-Alvarez Maite, Rodríguez-Martínez María B, Ciordia Roberto, Zarranz Juan J, Farrer Matthew J, Mata Ignacio F, de Pancorbo Marian M
机构信息
Servicio General de Investigación Genómica, Banco de ADN and Departamento de Z.y Biología Celular A., Universidad del País Vasco, Vitoria-Gasteiz, Spain.
出版信息
Parkinsonism Relat Disord. 2007 Dec;13(8):509-15. doi: 10.1016/j.parkreldis.2007.04.003. Epub 2007 May 30.
Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.
在此，我们描述了西班牙北部与Lrrk2相关的帕金森病的一项比较临床和遗传学研究。在我们来自巴斯克地区的样本中，Lrrk2基因的R1441G和G2019S突变在50个帕金森病家族中有15个（占30%）出现。我们观察到R1441G和G2019S突变携带者存在共同的始祖单倍型。我们的研究结果凸显了Lrrk2相关帕金森病在该人群中的重要性，并且可能对其在北美洲、中美洲和南美洲的海外散居群体产生重要影响。
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