LRRK2 G2019S mutation: Frequency and haplotype data in South African Parkinson's disease patients

Journal of Neural Transmission

Volumn 117, Issue 7, 2010, Pages 847-853

  Bardien, Soraya ^a   Marsberg, Angelica ^a   Keyser, Rowena ^a   Lombard, Debbie ^a   Lesage, Suzanne ^b,c,d   Brice, Alexis ^b,c,d   Carr, Jonathan ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b SORBONNE UNIVERSITÉ   (France)

^c INSERM   (France)

^d CNRS   (France)

Author keywords

G2019S; Haplotype 1; High resolution melt; LRRK2; Parkinson's disease

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ADULT; AGED; ARTICLE; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PARKINSON DISEASE; PRIORITY JOURNAL; SOUTH AFRICA; BLACK PERSON; CAUCASIAN; FAMILY; GENE FREQUENCY; GENETICS; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; SOUTH AFRICA; YOUNG ADULT;

EID: 77954538456     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-010-0423-6     Document Type: Article

References (38)

1. XK An R Peng T Li JM Burgunder Y Wu WJ Chen JH Zhang YC Wang YM Xu YR Gou GG Yuan ZJ Zhang 2008 LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China Eur J Neurol 15 301 305 10.1111/j.1468-1331.2007.02052.x 18201193 (Pubitemid 351257927)
2. A Bar-Shira CM Hutter N Giladi CP Zabetian A Orr-Urtreger 2009 Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries Neurogenetics 10 355 358 10.1007/s10048-009-0186-0 19283415
3. L Bosgraaf PJ Van Haastert 2003 Roc, a Ras/GTPase domain in complex proteins Biochim Biophys Acta 1643 5 10 10.1016/j.bbamcr.2003.08.008 1:CAS:528:DC%2BD3sXptlOqtLg%3D 14654223 (Pubitemid 37494887)
4. AS Chen-Plotkin W Yuan C Anderson WE McCarty HI Hurtig CM Clark BL Miller VM Lee JQ Trojanowski M Grossman DV Van 2008 Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations Neurology 70 521 527 10.1212/01.WNL.0000280574.17166.26 1:CAS:528:DC%2BD1cXhsVyqu7Y%3D 17914064 (Pubitemid 351653376)
5. GL Correia JJ Ferreira MM Rosa M Coelho V Bonifati C Sampaio 2010 Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review Parkinsonism Relat Disord 16 237 242 10.1016/j.parkreldis. 2009.11.004
6. MC de Rijk LJ Launer K Berger MM Breteler JF Dartigues M Baldereschi L Fratiglioni A Lobo J Martinez-Lage C Trenkwalder A Hofman 2000 Prevalence of Parkinson's disease in Europe: a collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group Neurology 54 S21 S23 10854357
7. A Di Fonzo CF Rohe J Ferreira HF Chien L Vacca F Stocchi L Guedes E Fabrizio M Manfredi N Vanacore S Goldwurm G Breedveld C Sampaio G Meco E Barbosa BA Oostra V Bonifati 2005 A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease Lancet 365 412 415 1:CAS:528: DC%2BD2MXoslWitg%3D%3D 15680456
8. A Di Fonzo YH Wu-Chou CS Lu DM Van EJ Simons CF Rohe HC Chang RS Chen YH Weng N Vanacore GJ Breedveld BA Oostra V Bonifati 2006 A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan Neurogenetics 7 133 138 10.1007/s10048-006-0041-5 1:CAS:528: DC%2BD28XhtVanu7%2FI 16633828 (Pubitemid 44078290)
9. A Elbaz JH Bower DM Maraganore SK McDonnell BJ Peterson JE Ahlskog DJ Schaid WA Rocca 2002 Risk tables for parkinsonism and Parkinson's disease J Clin Epidemiol 55 25 31 10.1016/S0895-4356(01)00425-5 11781119 (Pubitemid 34044099)
10. M Erali KV Voelkerding CT Wittwer 2008 High resolution melting applications for clinical laboratory medicine Exp Mol Pathol 85 50 58 10.1016/j.yexmp.2008.03.012 1:CAS:528:DC%2BD1cXosVOrtro%3D 18502416
11. MJ Farrer JT Stone CH Lin JC Dachsel MM Hulihan K Haugarvoll OA Ross RM Wu 2007 Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia Parkinsonism Relat Disord 13 89 92 10.1016/j.parkreldis.2006.12.001 17222580 (Pubitemid 46329522)
12. HC Fung CM Chen J Hardy AB Singleton YR Wu 2006 A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan BMC Neurol 6 47 10.1186/1471-2377-6-47 17187665 (Pubitemid 46178882)
13. BI Giasson V Van Deerlin 2008 Mutations in LRRK2 as a cause of Parkinson's disease Neurosignals 16 99 105 10.1159/000109764 1:CAS:528:DC%2BD1cXhs1WnsL0%3D 18097165 (Pubitemid 350308326)
14. WRG Gibb AJ Lees 1988 A comparison of clinical and pathological features of young-onset and old-onset Parkinsons-disease 1 Neurology 38 1402 1406 1:STN:280:DyaL1czhvFejsA%3D%3D 3412587
15. L Guo W Wang SG Chen 2006 Leucine-rich repeat kinase 2: relevance to Parkinson's disease Int J Biochem Cell Biol 38 1469 1475 10.1016/j.biocel.2006. 02.009 1:CAS:528:DC%2BD28XkvVGjsbc%3D 16600664 (Pubitemid 43729302)
16. DG Healy M Falchi SS O'Sullivan V Bonifati A Durr S Bressman A Brice J Aasly CP Zabetian S Goldwurm JJ Ferreira E Tolosa DM Kay C Klein DR Williams C Marras AE Lang ZK Wszolek J Berciano AH Schapira T Lynch KP Bhatia T Gasser AJ Lees NW Wood 2008 Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study Lancet Neurol 7 583 590 10.1016/S1474-4422(08)70117-0 1:CAS:528:DC%2BD1cXptVWju7o%3D 18539534
17. J Kachergus IF Mata M Hulihan JP Taylor S Lincoln J Aasly JM Gibson OA Ross T Lynch J Wiley H Payami J Nutt DM Maraganore K Czyzewski M Styczynska ZK Wszolek MJ Farrer M Toft 2005 Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations Am J Hum Genet 76 672 680 10.1086/429256 1:CAS:528: DC%2BD2MXisleisLY%3D 15726496 (Pubitemid 40432174)
18. S Lesage A Brice 2009 Parkinson's disease: from monogenic forms to genetic susceptibility factors Hum Mol Genet 18 R48 R59 10.1093/hmg/ddp012 1:CAS:528:DC%2BD1MXjsFSntrc%3D 19297401
19. S Lesage A Durr M Tazir E Lohmann AL Leutenegger S Janin P Pollak A Brice 2006 LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs N Engl J Med 354 422 423 10.1056/NEJMc055540 1:CAS:528:DC%2BD28XnslWisg%3D%3D 16436781 (Pubitemid 43145082)
20. S Lesage S Janin E Lohmann AL Leutenegger L Leclere F Viallet P Pollak F Durif S Thobois V Layet M Vidailhet Y Agid A Durr A Brice AM Bonnet M Borg E Broussolle P Damier A Destee M Martinez C Penet O Rasco F Tison C Tranchan M Verin 2007 LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans Arch Neurol 64 425 430 10.1001/archneur.64.3.425 17353388 (Pubitemid 46425700)
21. S Lesage S Belarbi A Troiano C Condroyer N Hecham P Pollak E Lohman T Benhassine F Ysmail-Dahlouk A Durr M Tazir A Brice 2008 Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? Neurology 71 1550 1552 10.1212/01.wnl.0000338460.89796.06 1:STN:280: DC%2BD1cjhslCiuw%3D%3D 18981379
22. Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Durr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A (2010) Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum Mol Genet (Epub ahead of print)
23. I Marin WN van Egmond PJ Van Haastert 2008 The Roco protein family: a functional perspective FASEB J 22 3103 3110 10.1096/fj.08-111310 1:CAS:528:DC%2BD1cXhtV2rur3E 18523161
24. N Okubadejo A Britton C Crews R Akinyemi J Hardy A Singleton J Bras 2008 Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3 PLoS One 3 e3421 10.1371/journal.pone.0003421 18927607
25. A Orr-Urtreger C Shifrin U Rozovski S Rosner D Bercovich T Gurevich H Yagev-More A Bar-Shira N Giladi 2007 The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect? Neurology 69 1595 1602 10.1212/01.wnl.0000277637.33328.d8 1:CAS:528:DC%2BD2sXhtFekt7zE 17938369 (Pubitemid 350287143)
26. LJ Ozelius G Senthil R Saunders-Pullman E Ohmann A Deligtisch M Tagliati AL Hunt C Klein B Henick SM Hailpern RB Lipton J Soto-Valencia N Risch SB Bressman 2006 LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews N Engl J Med 354 424 425 10.1056/NEJMc055509 1:CAS:528:DC%2BD28XnslWisw%3D%3D 16436782 (Pubitemid 43145083)
27. N Patterson DC Petersen RE van der Ross H Sudoyo RH Glashoff S Marzuki D Reich VM Hayes 2010 Genetic structure of a unique admixed population: implications for medical research Hum Mol Genet 19 411 419 10.1093/hmg/ddp505 1:CAS:528:DC%2BC3cXotlar 19892779
28. C Pirkevi S Lesage C Condroyer H Tomiyama N Hattori S Ertan A Brice AN Basak 2009 A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype Neurogenetics 10 271 273 10.1007/s10048-009-0173-5 1:CAS:528:DC%2BD1MXntVSqsLw%3D 19172321
29. OA Ross YR Wu MC Lee M Funayama ML Chen AI Soto IF Mata GJ Lee-Chen CM Chen M Tang Y Zhao N Hattori MJ Farrer EK Tan RM Wu 2008 Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease Ann Neurol 64 88 92 10.1002/ana.21405 1:CAS:528:DC%2BD1cXhtVKnsrnJ 18412265
30. CB Santos-Reboucas CB Abdalla FJ Baldi PA Martins JC Correa AP Goncalves MS Cunha MB Borges JS Pereira J Laks MM Pimentel 2008 Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation Genet Test 12 471 473 10.1089/gte.2008.0042 1:CAS:528:DC%2BD1cXhsFajsrzN 19072560
31. EK Tan Y Zhao L Skipper MG Tan FA Di L Sun S Fook-Chong S Tang E Chua Y Yuen L Tan R Pavanni MC Wong P Kolatkar CS Lu V Bonifati JJ Liu 2007 The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence Hum Genet 120 857 863 10.1007/s00439-006-0268-0 1:CAS:528:DC%2BD2sXnsF2isQ%3D%3D 17019612 (Pubitemid 46128841)
32. EK Tan LC Tan HQ Lim R Li M Tang Y Yih R Pavanni KM Prakash S Fook-Chong Y Zhao 2008 LRRK2 R1628P increases risk of Parkinson's disease: replication evidence Hum Genet 124 287 288 10.1007/s00439-008-0544-2 1:CAS:528: DC%2BD1cXht1art7jK 18781329
33. L Warren R Gibson L Ishihara R Elango Z Xue A Akkari L Ragone R Pahwa J Jankovic M Nance A Freeman RL Watts F Hentati 2008 A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease Parkinsonism Relat Disord 14 77 80 10.1016/j.parkreldis.2007.02.001 1:STN:280:DC%2BD1c%2FlvVGhtA%3D%3D 17433753
34. AB West DJ Moore S Biskup A Bugayenko WW Smith CA Ross VL Dawson TM Dawson 2005 Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity Proc Natl Acad Sci USA 102 16842 16847 10.1073/pnas.0507360102 1:CAS:528:DC%2BD2MXht1KgsLrI 16269541 (Pubitemid 41688864)
35. CT Wittwer GH Reed CN Gundry JG Vandersteen RJ Pryor 2003 High-resolution genotyping by amplicon melting analysis using LCGreen Clin Chem 49 853 860 10.1373/49.6.853 1:CAS:528:DC%2BD3sXkt1Oms7Y%3D 12765979 (Pubitemid 36623462)
36. CP Zabetian CM Hutter D Yearout AN Lopez SA Factor A Griffith BC Leis TD Bird JG Nutt DS Higgins JW Roberts DM Kay KL Edwards A Samii H Payami 2006 LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago Am J Hum Genet 79 752 758 10.1086/508025 1:CAS:528:DC%2BD28XhtVChurvO 16960813 (Pubitemid 44452754)
37. CP Zabetian H Morino H Ujike M Yamamoto M Oda H Maruyama Y Izumi R Kaji A Griffith BC Leis JW Roberts D Yearout A Samii H Kawakami 2006 Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease Neurology 67 697 699 10.1212/01.wnl.0000227732.37801.d4 1:CAS:528:DC%2BD28XnvVynsL8%3D 16728648 (Pubitemid 44273625)
38. Z Zhang JM Burgunder X An Y Wu W Chen J Zhang Y Wang Y Xu Y Gou G Yuan X Mao R Peng 2009 LRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China Mov Disord 24 1902 1905 10.1002/mds.22371 19672984