A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

Neurobiology of Aging

Volumn 35, Issue 5, 2014, Pages 1125-1131

  Trinh, Joanne ^a   Amouri, Rim ^b   Duda, John E ^c   Morley, James F ^c   Read, Matthew ^d   Donald, Alan ^a   Vilariño Güell, Carles ^a   Thompson, Christina ^a   Szu Tu, Chelsea ^a   Gustavsson, Emil K ^a   Ben Sassi, Samia ^b   Hentati, Emna ^b   Zouari, Mourad ^b   Farhat, Emna ^b   Nabli, Fatma ^b   Hentati, Faycel ^b   Farrer, Matthew J ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Institut National de Neurologie Tunisia   (Tunisia)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d Prn   (United Kingdom)

Author keywords

Genetics; LRRK2 parkinsonism; Parkinson disease; Penetrance

Indexed keywords

GENETICS; LRRK2 PARKINSONISM; PARKINSON DISEASE; PENETRANCE;

AGE FACTORS; AGE OF ONSET; AGED; CASE-CONTROL STUDIES; COGNITION; DISEASE PROGRESSION; FEMALE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MOLECULAR TARGETED THERAPY; MOTOR ACTIVITY; MUTATION; PARKINSON DISEASE; PROTEIN-SERINE-THREONINE KINASES; REGRESSION ANALYSIS; RISK; SEX FACTORS;

EID: 84893770183     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.11.015     Document Type: Article

References (37)

1. Aasly J.O., Toft M., Fernandez-Mata I., Kachergus J., Hulihan M., White L.R., Farrer M. Clinical features of LRRK2-associated Parkinson's disease in central Norway. Ann. Neurol. 2005, 57:762-765.
2. Alcalay R.N., Mejia-Santana H., Tang M.X., Rosado L., Verbitsky M., Kisselev S., Ross B.M., Louis E.D., Comella C.L., Colcher A., Jennings D., Nance M.A., Bressman S., Scott W.K., Tanner C., Mickel S.F., Andrews H.F., Waters C.H., Fahn S., Cote L.J., Frucht S.J., Ford B., Rezak M., Novak K., Friedman J.H., Pfeiffer R., Marsh L., Hiner B., Siderowf A., Caccappolo E., Ottman R., Clark L.N., Marder K.S. Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. Arch. Neurol. 2009, 66:1517-1522. 10.1001/archneurol.2009.267.
3. Braak H., Del Tredici K., Rub U., de Vos R.A., Jansen Steur E.N., Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol. Aging 2003, 24:197-211.
4. de Lau L.M., Breteler M.M. Epidemiology of Parkinson's disease. Lancet Neurol. 2006, 5:525-535.
5. Diamond S.G., Markham C.H., Hoehn M.M., McDowell F.H., Muenter M.D. Effect of age at onset on progression and mortality in Parkinson's disease. Neurology 1989, 39:1187-1190.
6. Fahn S. Description of Parkinson's disease as a clinical syndrome. Ann. N. Y Acad. Sci. 2003, 991:1-14.
7. Giasson B.I., Covy J.P., Bonini N.M., Hurtig H.I., Farrer M.J., Trojanowski J.Q., Van Deerlin V.M. Biochemical and pathological characterization of Lrrk2. Ann. Neurol. 2006, 59:315-322. 10.1002/ana.20791.
8. Goedert M., Spillantini M.G., Del Tredici K., Braak H. 100 years of Lewy pathology. Nat. Rev. Neurol. 2013, 9:13-24. 10.1038/nrneurol.2012.242.
9. Gosal D., Ross O.A., Wiley J., Irvine G.B., Johnston J.A., Toft M., Mata I.F., Kachergus J., Hulihan M., Taylor J.P., Lincoln S.J., Farrer M.J., Lynch T., Mark Gibson J. Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. Parkinsonism Relat. Disord. 2005, 11:349-352. 10.1016/j.parkreldis.2005.05.004.
10. Healy D.G., Falchi M., O'Sullivan S.S., Bonifati V., Durr A., Bressman S., Brice A., Aasly J., Zabetian C.P., Goldwurm S., Ferreira J.J., Tolosa E., Kay D.M., Klein C., Williams D.R., Marras C., Lang A.E., Wszolek Z.K., Berciano J., Schapira A.H., Lynch T., Bhatia K.P., Gasser T., Lees A.J., Wood N.W. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 2008, 7:583-590.
11. Hoehn M.M., Yahr M.D. Parkinsonism: onset, progression and mortality. Neurology 1967, 17:427-442.
12. Hughes A.J., Ben-Shlomo Y., Daniel S.E., Lees A.J. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathologic study. Neurology 1992, 42:1142-1146.
13. Hulihan M.M., Ishihara-Paul L., Kachergus J., Warren L., Amouri R., Elango R., Prinjha R.K., Upmanyu R., Kefi M., Zouari M., Sassi S.B., Yahmed S.B., El Euch-Fayeche G., Matthews P.M., Middleton L.T., Gibson R.A., Hentati F., Farrer M.J. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol. 2008, 7:591-594.
14. Hummel T., Kobal G., Gudziol H., Mackay-Sim A. Normative data for the "Sniffin' Sticks" including tests of odor identification, odor discrimination, and olfactory thresholds: an upgrade based on a group of more than 3,000 subjects. Eur. Arch. Otorhinolaryngol. 2007, 264:237-243. 10.1007/s00405-006-0173-0.
15. Hummel T., Sekinger B., Wolf S.R., Pauli E., Kobal G. 'Sniffin' sticks': olfactory performance assessed by the combined testing of odor identification, odor discrimination and olfactory threshold. Chem. Senses 1997, 22:39-52.
16. Ishihara L., Warren L., Gibson R., Amouri R., Lesage S., Durr A., Tazir M., Wszolek Z.K., Uitti R.J., Nichols W.C., Griffith A., Hattori N., Leppert D., Watts R., Zabetian C.P., Foroud T.M., Farrer M.J., Brice A., Middleton L., Hentati F. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch. Neurol. 2006, 63:1250-1254. 10.1001/archneur.63.9.1250.
17. Johns M.W. Anew method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991, 14:540-545.
18. Kachergus J., Mata I.F., Hulihan M., Taylor J.P., Lincoln S., Aasly J., Gibson J.M., Ross O.A., Lynch T., Wiley J., Payami H., Nutt J., Maraganore D.M., Czyzewski K., Styczynska M., Wszolek Z.K., Farrer M.J., Toft M. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am. J. Hum. Genet. 2005, 76:672-680.
19. Latourelle J.C., Sun M., Lew M.F., Suchowersky O., Klein C., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Watts R.L., Guttman M., Racette B.A., Perlmutter J.S., Ahmed A., Shill H.A., Singer C., Goldwurm S., Pezzoli G., Zini M., Saint-Hilaire M.H., Hendricks A.E., Williamson S., Nagle M.W., Wilk J.B., Massood T., Huskey K.W., Laramie J.M., DeStefano A.L., Baker K.B., Itin I., Litvan I., Nicholson G., Corbett A., Nance M., Drasby E., Isaacson S., Burn D.J., Chinnery P.F., Pramstaller P.P., Al-hinti J., Moller A.T., Ostergaard K., Sherman S.J., Roxburgh R., Snow B., Slevin J.T., Cambi F., Gusella J.F., Myers R.H. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008, 6:32.
20. Lesage S., Ibanez P., Lohmann E., Pollak P., Tison F., Tazir M., Leutenegger A.L., Guimaraes J., Bonnet A.M., Agid Y., Durr A., Brice A. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann. Neurol. 2005, 58:784-787.
21. Miller S.A., Dykes D.D., Polesky H.F. Asimple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
22. Moreno V., Chatterjee N., Mukherjee B. Analysis of kin-cohort studies, kin.cohort. R: A Language and Environment for Statistical Computing, R Package, Version 05-2008 2008, R Foundation for Statistical Computing, Vienna. R.D.C. Team (Ed.).
23. Movement Disorder Society Task Force on Rating Scales for Parkinson's Disease The unified Parkinson's disease rating scale (UPDRS): status and recommendations. Mov. Disord. 2003, 18:738-750. 10.1002/mds.10473.
24. Nishioka K.M.P., Kefi M.M., Jasinska-Myga B.M.P., Wider C.M., Vilarino-Guell C.P., Ross O.A.P., Heckman M.G.M., Middleton L.T.M., Ishihara-Paul L.P., Gibson R.A.P., Amouri R.M.P., Yahmed S.B.M., Sassi S.B.M., Zouari M.M., Euch G.E.M., Farrer M.J.P., Hentati F.M. Acomparative study of LRRK2, PINK1 and genetically undefined familial Parkinson disease. J.Neurol. Neurosurg. Psychiatry 2009, 81:391-395.
25. Ozelius L.J., Senthil G., Saunders-Pullman R., Ohmann E., Deligtisch A., Tagliati M., Hunt A.L., Klein C., Henick B., Hailpern S.M., Lipton R.B., Soto-Valencia J., Risch N., Bressman S.B. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N.Engl. J. Med. 2006, 354:424-425.
26. Paisan-Ruiz C., Lang A.E., Kawarai T., Sato C., Salehi-Rad S., Fisman G.K., Al-Khairallah T., St George-Hyslop P., Singleton A., Rogaeva E. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology 2005, 65:696-700. 10.1212/01.wnl.0000167552.79769.b3.
27. Pchelina S.N., Ivanova O.N., Emel'ianov A.K., Iakimovskii A.F. [Clinical features of LRRK2-associated Parkinson's disease]. Zh. Nevrol. Psikhiatr. Im. S S Korsakova 2011, 111:56-62. [in Russian].
28. Ross O.A., Soto-Ortolaza A.I., Heckman M.G., Aasly J.O., Abahuni N., Annesi G., Bacon J.A., Bardien S., Bozi M., Brice A., Brighina L., Van Broeckhoven C., Carr J., Chartier-Harlin M.C., Dardiotis E., Dickson D.W., Diehl N.N., Elbaz A., Ferrarese C., Ferraris A., Fiske B., Gibson J.M., Gibson R., Hadjigeorgiou G.M., Hattori N., Ioannidis J.P., Jasinska-Myga B., Jeon B.S., Kim Y.J., Klein C., Kruger R., Kyratzi E., Lesage S., Lin C.H., Lynch T., Maraganore D.M., Mellick G.D., Mutez E., Nilsson C., Opala G., Park S.S., Puschmann A., Quattrone A., Sharma M., Silburn P.A., Sohn Y.H., Stefanis L., Tadic V., Theuns J., Tomiyama H., Uitti R.J., Valente E.M., van de Loo S., Vassilatis D.K., Vilarino-Guell C., White L.R., Wirdefeldt K., Wszolek Z.K., Wu R.M., Farrer M.J. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 2011, 10:898-908.
29. Saunders-Pullman R., Stanley K., Wang C., San Luciano M., Shanker V., Hunt A., Severt L., Raymond D., Ozelius L.J., Lipton R.B., Bressman S.B. Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology 2011, 77:319-324. 10.1212/WNL.0b013e318227041c.
30. Schwab R, England A. Projection techniques for evaluating surgery in Parkinson's disease. Third Symposium on Parkinson's disease; May 20-22, 1968. Royal College of Surgeons in Edinburgh: E. & S. Livingstone Ltd; 1969. pp. 152-7.
31. Shanker V., Groves M., Heiman G., Palmese C., Saunders-Pullman R., Ozelius L., Raymond D., Bressman S. Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease. Mov Disord. 2011, 26:1875-1880. 10.1002/mds.23746.
32. Trinh J., Farrer M.J. Advances in the genetics of Parkinson disease. Nat. Rev. Neurol. 2013, 9:445-454.
33. Trinh J., Vilarino-Guell C., Donald A., Shah B., Yu I., Szu-Tu C., Aasly J.O., Wu R.M., Hentati F., Rajput A.H., Rajput A., Farrer M.J. STX6 rs1411478 is not associated with increased risk of Parkinson's disease. Parkinsonism Relat. Disord. 2013, 19:563-565. 10.1016/j.parkreldis.2013.01.019.
34. Visser M., Marinus J., Stiggelbout A.M., Van Hilten J.J. Assessment of autonomic dysfunction in Parkinson's disease: the SCOPA-AUT. Mov Disord. 2004, 19:1306-1312. 10.1002/mds.20153.
35. Wacholder S., Hartge P., Struewing J.P., Pee D., McAdams M., Brody L., Tucker M. The kin-cohort study for estimating penetrance. Am. J. Epidemiol. 1998, 148:623-630.
36. Warren R.L., Freeman J.D., Zeng T., Choe G., Munro S., Moore R., Webb J.R., Holt R.A. Exhaustive T-cell repertoire sequencing of human peripheral blood samples reveals signatures of antigen selection and a directly measured repertoire size of at least 1 million clonotypes. Genome Res. 2011, 21:790-797. doi:gr.115428.110 [pii] 10.1101/gr.115428.110.
37. Yesavage J.A., Brink T.L., Rose T.L., Lum O., Huang V., Adey M., Leirer V.O. Development and validation of a geriatric depression screening scale: a preliminary report. J.Psychiatr. Res. 1982, 17:37-49.