特发性震颤的遗传学研究进展_West China Medical Journal

Authors：

王玲 ,  彭蓉

四川大学华西医院神经内科（成都 610041）;

Corresponding author：

彭蓉, Email: qrongpeng@126.com

Keywords：

特发性震颤; 基因; 连锁分析; 全基因组关联分析; 全外显子测序

DOI：

10.7507/1002-0179.201702217

Video：

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Abstract Full text Figures/Tables Video References Cited by

特发性震颤（essential tremor，ET）是最常见的成年起病的神经系统变性疾病之一。ET 分为家族性和散发性 2 种，约一半以上患者存在家族史，遗传因素可能发挥着重要作用。目前，大量研究致力于寻找 ET 发病的风险位点及致病基因。进行 ET 遗传学分析有助于进一步研究其病理生理机制，因此文章从该病的单基因遗传模式及复杂疾病遗传模式 2 个方面对 ET 的遗传学进展进行了阐述。

Citation： 王玲, 彭蓉. 特发性震颤的遗传学研究进展. West China Medical Journal, 2017, 32(5): 688-693. doi: 10.7507/1002-0179.201702217 Copy

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1. Louis ED, Gerbin M, Galecki M. Essential tremor 10, 20, 30, 40: clinical snapshots of the disease by decade of duration. Eur J Neurol, 2013, 20(6): 949-954.
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(5): 534-541.
3. Muthuraman M, Deuschl G, Anwar AR, et al. Essential and aging-related tremor: differences of central control. Mov Disord, 2015, 30(12): 1673-1680.
4. Benito-León J. Essential tremor: from a monosymptomatic disorder to a more complex entity. Neuroepidemiology, 2008, 31(3): 191-192.
5. Chandran V, Pal PK. Essential tremor: beyond the motor features. Parkinsonism Relat Disord, 2012, 18(5): 407-413.
6. Bain PG, Findley LJ, Thompson PD, et al. A study of hereditary essential tremor. Brain, 1994, 117(Pt 4): 805-824.
7. Louis ED, Okun MS. It is time to remove the " benign” from the essential tremor label. Parkinsonism Relat Disord, 2011, 17(7): 516-520.
8. Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, et al. Update on genetics of essential tremor. Acta Neurol Scand, 2013, 128(6): 359-371.
9. Lorenz D, Frederiksen H, Moises H, et al. High concordance for essential tremor in monozygotic twins of old age. Neurology, 2004, 62(2): 208-211.
10. Tanner CM, Goldman SM, Lyons KE, et al. Essential tremor in twins: an assessment of geneticvs environmental determinants of etiology. Neurology, 2001, 57(8): 1389-1391.
11. Louis ED. Environmental epidemiology of essential tremor. Neuroepidemiology, 2008, 31(3): 139-149.
12. Ma S, Davis TL, Blair MA, et al. Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?. Mov Disord, 2006, 21(9): 1368-1374.
13. Gulcher JR, Jónsson P, Kong A, et al. Mapping of a familial essential tremor gene,FET1, to chromosome 3q13. Nat Genet, 1997, 17(1): 84-87.
14. Illarioshkin SN, Ivanova-Smolenskaya IA, Rahmonov RA, et al. Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan. Mov Disord, 2000, 15(5): 1020-1023.
15. Kovach MJ, Ruiz J, Kimonis K, et al. Genetic heterogeneity in autosomal dominant essential tremor. Genet Med, 2001, 3(3): 197-199.
16. Abbruzzese G, Pigullo S, Di Maria E, et al. Clinical and genetic study of essential tremor in the Italian population. Neurol Sci, 2001, 22(1): 39-40.
17. 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, 2009, 17(6): 766-773.
18. Aridon P, Ragonese P, De Fusco M, et al. Further evidence of genetic heterogeneity in familial essential tremor. Parkinsonism Relat Disord, 2008, 14(1): 15-18.
19. Novelletto A, Gulli R, Ciotti P, et al. Linkage exclusion in Italian families with hereditary essential tremor. Eur J Neurol, 2011, 18(9): e118-e120.
20. Pasini E, Busolin G, Nobile C, et al. Autosomal dominant essential tremor: a novel family with anticipation. Neurol Sci, 2013, 34(5): 761-763.
21. 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(28): 10753-10758.
22. Tan EK, Prakash KM, Fook-Chong S, et al.DRD3 variant and risk of essential tremor. Neurology, 2007, 68(10): 790-791.
23. Blair MA, Ma S, Phibbs F, et al. Reappraisal of the role of theDRD3 gene in essential tremor. Parkinsonism Relat Disord, 2008, 14(6): 471-475.
24. Inashkina I, Radovica I, Smeltere L, et al. Case-control study of patients with essential tremor in Latvia. Eur J Neurol, 2008, 15(9): 988-990.
25. 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(9): 985-987.
26. García-Martín E, Martínez C, Alonso-Navarro H, et al. Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. Mov Disord, 2009, 24(13): 1910-1915.
27. Jiménez-Jiménez FJ, García-Martín E, Alonso-Navarro H, et al. A family study ofDRD3 rs6280,SLC1A2 rs3794087 andMAPT rs1052553 variants in essential tremor. Neurol Res, 2016, 38(10): 880-887.
28. Higgins JJ, Pho LT, Nee LE. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord, 1997, 12(6): 859-864.
29. Higgins JJ, Loveless JM, Jankovic J, et al. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord, 1998, 13(6): 972-977.
30. Higgins JJ, Lombardi RQ, Pucilowska J, et al. A variant in theHS1-BP3 gene is associated with familial essential tremor. Neurology, 2005, 64(3): 417-421.
31. Shatunov A, Jankovic J, Elble R, et al. A variant in theHS1-BP3 gene is associated with familial essential tremor. Neurology, 2005, 65(12): 1995; author reply 1995.
32. Higgins JJ, Lombardi RQ, Pucilowska J, et al.HS1-BP3 gene variant is common in familial essential tremor. Mov Disord, 2006, 21(3): 306-309.
33. 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(Pt 9): 2318-2331.
34. Merner ND, Girard SL, Catoire H, et al. Exome sequencing identifiesFUS mutations as a cause of essential tremor. Am J Hum Genet, 2012, 91(2): 313-319.
35. Hedera P, Davis TL, Phibbs FT, et al.FUS in familial essential tremor-the search for common causes is still on. Parkinsonism Relat Disord, 2013, 19(9): 818-820.
36. Labbé C, Soto-Ortolaza AI, Rayaprolu S, et al. Investigating the role ofFUS exonic variants in essential tremor. Parkinsonism Relat Disord, 2013, 19(8): 755-757.
37. Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, et al. Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans. Neurobiol Aging, 2013, 34(10): 2441.e9-2441.e11.
38. Parmalee N, Mirzozoda K, Kisselev S, et al. Genetic analysis of theFUS/TLS gene in essential tremor. Eur J Neurol, 2013, 20(3): 534-539.
39. Zheng W, Deng X, Liang H, et al. Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. Neurobiol Aging, 2013, 34(8): 2078. e3-2078. e4.
40. Rajput A, Rajput AH, Rajput ML, et al. Identification ofFUS p.R377W in essential tremor. Eur J Neurol, 2014, 21(2): 361-363.
41. Tio M, Wen R, Lim YL, et al.FUS-linked essential tremor associated with motor dysfunction in Drosophila. Hum Genet, 2016, 135(11): 1223-1232.
42. Unal Gulsuner H, Gulsuner S, Mercan FN, et al. Mitochondrial serine proteaseHTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci USA, 2014, 111(51): 18285-18290.
43. Tzoulis C, Zayats T, Knappskog PM, et al.HTRA2 p. G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci USA, 2015, 112(18): E2268.
44. Chao YX, Ng EY, Foo JN, et al. Mitochondrial serine proteaseHTRA2 gene mutation in Asians with coexistent essential tremor and Parkinson disease. Neurogenetics, 2015, 16(3): 241-242.
45. Renaud M, Marcel C, Rudolf G, et al. A step toward essential tremor gene discovery: identification of extreme phenotype and screening ofHTRA2 andANO3. BMC Neurol, 2016, 16(1): 238.
46. Hor H, Francescatto L, Bartesaghi L, et al. Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor. Hum Mol Genet, 2015, 24(20): 5677-5686.
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