Genetics of essential tremor: Meta-analysis and review

Neurology

Volumn 82, Issue 11, 2014, Pages 1000-1007

  Kuhlenbäumer, Gregor ^a,c   Hopfner, Franziska ^a,b   Deuschl, Günther ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ESSENTIAL TREMOR; EXOME; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; LINKAGE ANALYSIS; MOLECULAR GENETICS; MONOGENIC DISORDER; PRIORITY JOURNAL; REVIEW;

ESSENTIAL TREMOR; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MUTATION; NERVE TISSUE PROTEINS; PUBMED;

EID: 84898736257     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000211     Document Type: Review

References (60)

1. Bach JP, Ziegler U, Deuschl G, Dodel R, Doblhammer-Reiter G. Projected numbers of people with movement disorders in the years 2030 and 2050. Mov Disord 2011;26:2286-2290.
2. Louis ED, Ferreira JJ. How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor. Mov Disord 2010;25:534-541.
3. Koller WC, Busenbark K, Miner K. The relationship of essential tremor to other movement disorders: report on 678 patients: Essential Tremor Study Group. Ann Neurol 1994;35:717-723.
4. Louis ED. Age of onset: can we rely on essential tremor patients to report this? Data from a prospective, longitudinal study. Neuroepidemiology 2013;40:93-98.
5. Bain P, Brin M, Deuschl G, et al. Criteria for the diagnosis of essential tremor. Neurology 2000;54:S7.
6. Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on tremor: Ad Hoc Scientific Committee. Mov Disord 1998;13(suppl 3):2-23.
7. Louis ED, Ottman R, Ford B, et al. The Washington Heights-Inwood Genetic Study of essential tremor: methodologic issues in essential-tremor research. Neuroepidemiology 1997;16:124-133.
8. Busenbark K, Barnes P, Lyons K, Ince D, Villagra F, Koller WC. Accuracy of reported family histories of essential tremor. Neurology 1996;47:264-265.
9. Louis ED, Ford B, Wendt KJ, Ottman R. Validity of family history data on essential tremor. Mov Disord 1999;14:456-461.
10. Prakash KM, Tan EK. Validity of family history in essential tremor. Parkinsonism Relat Disord 2008;14:151-153.
11. Jankovic J, Beach J, Schwartz K, Contant C. Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. Neurology 1995;45: 645-648.
12. Louis ED, Ford B, Frucht S, Barnes LF, X-Tang M, Ottman R. Risk of tremor and impairment from tremor in relatives of patients with essential tremor: a communitybased family study. Ann Neurol 2001;49:761-769.
13. Louis ED, Barnes LF, Ford B, Ottman R. Family history information on essential tremor: potential biases related to the source of the cases. Mov Disord 2001;16:320-324.
14. Louis ED, Ottman R. Study of possible factors associated with age of onset in essential tremor. Mov Disord 2006; 21:1980-1986.
15. Tanner CM, Goldman SM, Lyons KE, et al. Essential tremor in twins: an assessment of genetic vs environmental determinants of etiology. Neurology 2001;57:1389-1391.
16. Lorenz D, Frederiksen H, Moises H, Kopper F, Deuschl G, Christensen K. High concordance for essential tremor in monozygotic twins of old age. Neurology 2004; 62:208-211.
17. Jimenez-Jimenez FJ, Alonso-Navarro H, Garcia-Martin E, Agundez JA. The relationship between Parkinson's disease and essential tremor: review of clinical, epidemiologic, genetic, neuroimaging and neuropathological data, and data on the presence of cardinal signs of parkinsonism in essential tremor. Tremor Other Hyperkinet Mov Epub 2012 Sep 12.
18. Münchau A, Schrag A, Chuang C, et al. Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptoms. Brain 2001;124:1765-1776.
19. Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord 2012;27:1789-1796.
20. Deuschl G, Elble R. Essential tremor-neurodegenerative or nondegenerative disease towards a working definition of ET. Mov Disord 2009;24:2033-2041.
21. Zamora J, Abraira V, Muriel A, Khan K, Coomarasamy A. Meta-DiSc: a software for meta-analysis of test accuracy data. BMC Med Res Methodol 2006;6:31.
22. Bain PG, Findley LJ, Thompson PD, et al. A study of hereditary essential tremor. Brain 1994;117:805-824.
23. Lathrop G, Lalouel J. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-465.
24. Gulcher JR, Jonsson P, Kong A, et al. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 1997;17:84-87.
25. Jeanneteau F, Funalot B, Jankovic J, 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 USA 2006;103:10753-10758.
26. Blair MA, Ma S, Phibbs F, et al. Reappraisal of the role of the DRD3 gene in essential tremor. Parkinsonism Relat Disord 2008;14:471-475.
27. Garcia-Martin E, Martinez C, Alonso-Navarro H, et al. Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. Mov Disord 2009;24: 1910-1915.
28. Inashkina I, Radovica I, Smeltere L, Vitols E, Jankevics E. Case-control study of patients with essential tremor in atvia. Eur J Neurol 2008;15:988-990.
29. Lorenz D, Klebe S, Stevanin G, et al. Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet 2008;17: 766-773.
30. Tan EK, Prakash KM, Fook-Chong S, et al. DRD3 variant and risk of essential tremor. Neurology 2007;68: 790-791.
31. Vitale C, Gulli R, Ciotti P, et al. DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients. Eur J Neurol 2008;15:985-987.
32. Higgins JJ, Pho LT, Nee LE. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 1997;12:859-864.
33. Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Tan EK, Rooney JP. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 2005; 64:417-421.
34. Deng H, Le WD, Guo Y, Huang MS, Xie WJ, Jankovic J. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology 2005;65:651-652.
35. Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Golbe LI, Verhagen L. HS1-BP3 gene variant is common in familial essential tremor. Mov Disord 2006;21:306-309.
36. Shatunov A, Sambuughin N, Jankovic J, et al. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain 2006;129:2318-2331.
37. Merner ND, Girard SL, Catoire H, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet 2012;91:313-319.
38. Stefansson H, Steinberg S, Petursson H, et al. Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet 2009;41:277-279.
39. Bourassa CV, Riviere JB, Dion PA, et al. LINGO1 variants in the French-Canadian population. PLoS One 2011;6:e16254.
40. Clark LN, Park N, Kisselev S, Rios E, Lee JH, Louis ED. Replication of the LINGO1 gene association with essential tremor in a North American population. Eur J Hum Genet 2010;18:838-843.
41. Lorenzo-Betancor O, Garcia-Martin E, Cervantes S, et al. Lack of association of LINGO1 rs9652490 and rs11856808 SNPs with familial essential tremor. Eur J Neurol 2011;18:1085-1089.
42. Radovica I, Inashkina I, Smeltere L, Vitols E, Jankevics E. Screening of 10 SNPs of LINGO1 gene in patients with essential tremor in the Latvian population. Parkinsonism Relat Disord 2012;18:93-95.
43. Tan EK, Teo YY, Prakash KM, et al. LINGO1 variant increases risk of familial essential tremor. Neurology 2009;73:1161-1162.
44. Thier S, Lorenz D, Nothnagel M, et al. LINGO1 polymorphisms are associated with essential tremor in Europeans. Mov Disord 2010;25:709-715.
45. Vilarino-Guell C, Ross OA, Wider C, et al. LINGO1 rs9652490 is associated with essential tremor and Parkinson disease. Parkinsonism Relat Disord 2010;16:109-111.
46. Vilarino-Guell C, Wider C, Ross OA, et al. LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease. Neurogenetics 2010;11:401-408.
47. Wu YW, Rong TY, Li HH, et al. Analysis of LINGO1 variant in sporadic and familial essential tremor among Asians. Acta Neurol Scand 2011;124:264-268.
48. Zuo X, Jiang H, Guo JF, et al. Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population. Neurosci Lett 2010;481:69-72.
49. Thier S, Lorenz D, Nothnagel M, et al. Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. Neurology 2012;79:243-248.
50. Berger UV, Hediger MA. Comparative analysis of glutamate transporter expression in rat brain using differential double in situ hybridization. Anat Embryol 1998;198: 13-30.
51. Garcia-Martin E, Martinez C, Alonso-Navarro H, et al. No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population. Pharmacogenet Genomics 2013;23:587-590.
52. Tan EK, Foo JN, Tan L, et al. SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects. Neurology 2013;80:1618-1619.
53. Yu SW, Chen CM, Chen YC, et al. SLC1A2 variant is associated with essential tremor in Taiwanese population. PLoS One 2013;8:e71919.
54. Kralic JE, Criswell HE, Osterman JL, et al. Genetic essential tremor in gamma-aminobutyric acid A receptor alpha1 subunit knockout mice. J Clin Invest 2005;115:774-779.
55. Paris-Robidas S, Brochu E, Sintes M, et al. Defective dentate nucleus GABA receptors in essential tremor. Brain 2012;135:105-116.
56. Deng H, Xie WJ, Le WD, Huang MS, Jankovic J. Genetic analysis of the GABRA1 gene in patients with essential tremor. Neurosci Lett 2006;401:16-19.
57. Garcia-Martin E, Martinez C, Alonso-Navarro H, et al. Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor. Pharmacogenet Genomics 2011;21:436-439.
58. Garcia-Martin E, Martinez C, Alonso-Navarro H, et al. Gamma-aminobutyric acid (GABA) receptor rho (GABRR) olymorphisms and risk for essential tremor. J Neurol 2011; 258:203-211.
59. Thier S, Kuhlenbäumer G, Lorenz D, et al. GABAA receptorand GABA transporter polymorphisms and risk for essential tremor. Eur J Neurol 2011;18:1098-1100.
60. Bain F. Assessing Tremor Severity: A Clinical Handbook. London: Smith-Gordon; 1993.