LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease

被引:60
作者
Infante, J [1 ]
Rodríguez, E
Combarros, O
Mateo, I
Fontalba, A
Pascual, J
Oterino, A
Polo, JM
Leno, C
Berciano, J
机构
[1] Univ Cantabria, Univ Hosp Marques Valdecilla, Serv Neurol, Santander 39008, Spain
[2] Univ Cantabria, Univ Hosp Marques Valdecilla, Mol Genet Unit, Santander 39008, Spain
关键词
LRRK2; Parkinson's disease; mutation;
D O I
10.1016/j.neulet.2005.10.083
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Mutations in the leucine-rich repat kinase 2 (LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of these mutations remains to be established. To determine the prevalence of G2019S and R1441G mutations in our population of Cantabria (Northern Spain), we recruited 105 consecutive PD patients and 3 10 controls and conducted genetic analysis of these mutations. G2019S was detected in eight late-onset patients (7.6%). Five of them had no relevant family history. R 1441 G was not detected in any of our study subjects. The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD. (c) 2005 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:224 / 226
页数:3
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