Essential tremor and the common LRRK2 G2385R variant

Parkinsonism and Related Disorders

Volumn 14, Issue 7, 2008, Pages 569-571

  Tan, Eng King ^a   Lee, Jasinda ^a   Lim, Hui Qin ^a   Yuen, Yih ^a   Zhao, Yi ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

Author keywords

Essential tremor; LRRK2; Polymorphism; Variant

Indexed keywords

LEUCINE RICH REPEAT KINASE 2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; ESSENTIAL TREMOR; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN VARIANT;

ADULT; AGED; ARGININE; COHORT STUDIES; CONFIDENCE INTERVALS; DNA MUTATIONAL ANALYSIS; ESSENTIAL TREMOR; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCINE; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; PROTEIN-SERINE-THREONINE KINASES;

EID: 53749101937     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2007.12.003     Document Type: Article

References (29)

1. Tan E.K., and Skipper L.M. Pathogenic mutations in Parkinson disease. Hum Mutat 28 7 (2007) 641-653
2. Di Fonzo A., Wu-Chou Y.H., Lu C.S., van Doeselaar M., Simons E.J., Rohé C.F., et al. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 7 3 (2006) 133-138
3. Tan E.K., Zhao Y., Skipper L., Tan M.G., Di Fonzo A., Sun L., et al. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Hum Genet 120 6 (2007) 857-863
4. Fung H.C., Chen C.M., Hardy J., Singleton A.B., and Wu Y.R. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurol 6 1 (2006) 47
5. Farrer M.J., Stone J.T., Lin C.H., Dächsel J.C., Hulihan M.M., Haugarvoll, et al. Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. Parkinsonism Relat Disord 13 2 (2007) 89-92
6. Funayama M., Li Y., Yoshino H., Yoshino H., Imamichi Y., Yamamoto M., et al. A variation in LRRK2 is associated with Parkinson's disease in Asian population. Neuroreport 18 3 (2007) 273-275
7. Tan E.K. The role of common genetic risk variants in Parkinson disease. Clin Genet 72 5 (2007) 387-393
8. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., et al. Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-660
9. Skipper L., Shen H., Chua E., Bonnard C., Kolatkar P., Tan L.C., et al. Analysis of LRRK2 functional domains in nondominant Parkinson disease. Neurology 65 8 (2005) 1319-1321
10. Louis E.D., Honig L.S., Vonsattel J.P., Maraganore D.M., Borden S., and Moskowitz C.B. Essential tremor associated with focal nonnigral Lewy bodies: a clinicopathologic study. Arch Neurol 62 6 (2005) 1004-1007
11. Tan E.K., Matsuura T., Nagamitsu S., Khajavi M., Jankovic J., and Ashizawa T. Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor?. Neurology 54 5 (2000) 1195-1198
12. Geraghty J.J., Jankovic J., and Zetusky W.J. Association between essential tremor and Parkinson's disease. Ann Neurol 17 (1985) 329-333
13. Rocca W.A., Bower J.H., Ahlskog J.E., Elbaz A., Grossardt B.R., McDonnell S.K., et al. Increased risk of essential tremor in first-degree relatives of patients with Parkinson's disease. Mov Disord 22 11 (2007) 1607-1614
14. Louis E.D., and Frucht S.J. Prevalence of essential tremor in patients with Parkinson's disease vs. Parkinson-plus syndromes. Mov Disord 22 10 (2007) 1402-1407
15. Jankovic J., Beach J., Schwartz K., and Contant C. Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. Neurology 45 4 (1995) 645-648
16. Louis E.D., Levy G., Mejia-Santana H., Cote L., Andrews H., Harris J., et al. Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PD. Neurology 61 7 (2003) 931-936
17. Shahed J., and Jankovic J. Exploring the relationship between essential tremor and Parkinson's disease. Parkinsonism Relat Disord 13 2 (2007) 67-76
18. Lee M.S., Kim Y.D., Im J.H., Kim H.J., Rinne J.O., and Bhatia K.P. 123I-IPT brain SPECT study in essential tremor and Parkinson's disease. Neurology 52 (1999) 1422-1426
19. Brooks D.J., Playford E.D., Ibanez V., Sawle G.V., Thompson P.D., Findley L.J., et al. Isolated tremor and disruption of the nigrostriatal dopaminergic system: an 18F-dopa PET study. Neurology 42 8 (1992) 1554-1560
20. Deuschl G., Bain P., and Brin M. Consensus statement of the Movement Disorder Society on tremor. Ad Hoc Scientific Committee. Mov Disord 13 Suppl. 3 (1998) 2-23
21. Gulcher J.R., Jonsson P., Kong A., Kristjansson K., Frigge M.L., Karason A., et al. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 17 1 (1997) 84-87
22. Higgins J.J., Pho L.T., and Nee L.E. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 12 6 (1997) 859-864
23. Shatunov A., Sambuughin N., Jankovic J., Elble R., Lee H.S., Singleton A.B., et al. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain 129 Pt 9 (2006) 2318-2331
24. Deng H., Le W., and Jankovic J. Genetics of essential tremor. Brain 130 Pt 6 (2007 Jun) 1456-1464
25. Higgins J.J., Lombardi R.Q., Pucilowska J., Jankovic J., Tan E.K., and Rooney J.P. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 64 3 (2005) 417-421
26. Shatunov A., Jankovic J., Elble R., Sambuughin N., Singleton A., Hallett M., et al. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 65 12 (2005) 1995
27. Jeanneteau F., Funalot B., Jankovic J., Deng H., Lagarde J.P., Lucotte G., et al. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Natl Acad Sci U S A 103 28 (2006) 10753-10758
28. Tan E.K., Prakash K.M., Fook-Chong S., Yih Y., Chua E., Lum S.Y., et al. DRD3 variant and risk of essential tremor. Neurology 68 10 (2007) 790-791
29. Tan E.K., Khajavi M., Thornby J.I., Nagamitsu S., Jankovic J., and Ashizawa T. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology 55 4 (2000) 533-538