Investigation of LRRK2 G2019S Mutation in the Patients with Sporadic Parkinson's Disease in Turkey

被引:0
作者
Aslan, Huseyin [1 ]
Ozkan, Serhat [2 ]
Tepeli, Emre [3 ]
Emre, Ramazan [1 ]
Kutlay, Ozden [1 ]
Gurler, Abdullah Ihsan [1 ]
Uludag, Ahmet [4 ]
Muslumanoglu, M. Hamza [5 ]
机构
[1] Eskisehir Osmangazi Univ, Fac Med, Dept Med Genet, Eskisehir, Turkey
[2] Eskisehir Osmangazi Univ, Med Facult, Dept Neurol, Eskisehir, Turkey
[3] Denizli Pamukkale Univ, Dept Med Genet, Denizli, Turkey
[4] Canakkale Onsekiz Mart Univ, Dept Med Genet, Canakkale, Turkey
[5] Yildiz Tech Univ, Fac Sci & Arts, Dept Mol Biol, Istanbul, Turkey
来源
KONURALP TIP DERGISI | 2014年 / 6卷 / 01期
关键词
G2019S; LRRK2; Parkinson's disease;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective: Recently understanding genetic forms and pathogenic mutations has been providing growing knowledges about etiopathogenesis of Parkinson's disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson's disease patients. Aims of our study are to identify the frequency of the LRRK2 G2019S mutation in sporadic late onset Parkinson's disease patients from the Eskisehir, diagnostic utility of this mutation and to confer genetic counselling to the mutation carier patients. Methods: We investigated 83 patients with sporadic Parkinson's disease and 50 normal (healty) controls unrelated to patients. LRRK2 exon 41 was investigated with direct sequencing method. Results: Any point mutation or polymorphism was not detected in the LRRK2 exon 41 amongst patients and control subjects. Conclusion: Our findings suggest that the frequency of LRRK2 G2019S mutation is very lower in Turkish patients with Parkinson's disease.
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页码:1 / 4
页数:4
相关论文
共 22 条
[1]   Analysis of LRRK2 G2019S and I2020T mutations in Parkinson's disease [J].
Bialecka, M ;
Hui, S ;
Klodowska-Duda, G ;
Opala, G ;
Tan, EK ;
Drozdzik, M .
NEUROSCIENCE LETTERS, 2005, 390 (01) :1-3
[2]   Neuropsychological and perceptual defects in Parkinson's disease [J].
Bodis-Wollner, I .
PARKINSONISM & RELATED DISORDERS, 2003, 9 :S83-S89
[3]   Risk tables for parkinsonism and Parkinson's disease [J].
Elbaz, A ;
Bower, JH ;
Maraganore, DM ;
McDonnell, SK ;
Peterson, BJ ;
Ahlskog, JE ;
Schaid, DJ ;
Rocca, WA .
JOURNAL OF CLINICAL EPIDEMIOLOGY, 2002, 55 (01) :25-31
[4]   PRIOR HISTORY OF HEAD TRAUMA IN PARKINSONS-DISEASE [J].
FACTOR, SA ;
WEINER, WJ .
MOVEMENT DISORDERS, 1991, 6 (03) :225-229
[5]   A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan [J].
Fung, Hon-Chung ;
Chen, Chiung-Mei ;
Hardy, John ;
Singleton, Andrew B. ;
Wu, Yih-Ru .
BMC NEUROLOGY, 2006, 6 (1)
[6]   Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study [J].
Healy, Daniel G. ;
Falchi, Mario ;
O'Sullivan, Sean S. ;
Bonifati, Vincenzo ;
Durr, Alexandra ;
Bressman, Susan ;
Brice, Alexis ;
Aasly, Jan ;
Zabetian, Cyrus P. ;
Goldwurm, Stefano ;
Ferreira, Joaquim J. ;
Tolosa, Eduardo ;
Kay, Denise M. ;
Klein, Christine ;
Williams, David R. ;
Marras, Connie ;
Lang, Anthony E. ;
KWszolek, Zbigniew ;
Berciano, Jose ;
Schapira, Anthony H. V. ;
Lynch, Timothy ;
Bhatia, Kailash P. ;
Gasser, Thomas ;
Lees, Andrew J. ;
Wood, Nicholas W. .
LANCET NEUROLOGY, 2008, 7 (07) :583-590
[7]   Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease [J].
Hughes, AJ ;
Daniel, SE ;
Lees, AJ .
NEUROLOGY, 2001, 57 (08) :1497-1499
[8]   LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs [J].
Lesage, S ;
Dürr, A ;
Tazir, M ;
Lohmann, E ;
Leutenegger, AL ;
Janin, S ;
Pollak, P ;
Brice, A .
NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (04) :422-423
[9]   Parkinson's disease: from monogenic forms to genetic susceptibility factors [J].
Lesage, Suzanne ;
Brice, Alexis .
HUMAN MOLECULAR GENETICS, 2009, 18 :R48-R59
[10]   SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders [J].
Litvan, I ;
Bhatia, KP ;
Burn, DJ ;
Goetz, CG ;
Lang, AE ;
McKeith, I ;
Quinn, N ;
Sethi, KD ;
Shults, C ;
Wenning, GK .
MOVEMENT DISORDERS, 2003, 18 (05) :467-486