메뉴 건너뛰기




Volumn 146, Issue 4, 2008, Pages 433-439

Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH)

Author keywords

aCGH; Essential tremor; ETINPH; Idiopathic normal pressure hydrocephalus; Linkage analysis

Indexed keywords

AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DEMENTIA; ESSENTIAL TREMOR; FEMALE; GAIT DISORDER; GENE FUNCTION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; IDIOPATHIC DISEASE; INCONTINENCE; INTRACRANIAL PRESSURE; MALE; MOLECULAR GENETICS; NORMOTENSIVE HYDROCEPHALUS; PEDIGREE; PRIORITY JOURNAL;

EID: 38849140371     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31958     Document Type: Article
Times cited : (22)

References (70)
  • 2
    • 0015894412 scopus 로고
    • The nature of essential tremor
    • Ashenhurst EM. 1973. The nature of essential tremor. Can Med Assoc J 109:876-878.
    • (1973) Can Med Assoc J , vol.109 , pp. 876-878
    • Ashenhurst, E.M.1
  • 4
    • 33751256588 scopus 로고    scopus 로고
    • Essential tremor: Emerging views of a common disorder
    • Quiz 2p following 691
    • Benito-Leon J, Louis ED. 2006. Essential tremor: Emerging views of a common disorder. Nat Clin Pract Neurol 2:666-678; Quiz 2p following 691.
    • (2006) Nat Clin Pract Neurol , vol.2 , pp. 666-678
    • Benito-Leon, J.1    Louis, E.D.2
  • 6
    • 0031771921 scopus 로고    scopus 로고
    • Epidemiology and genetics of essential tremor
    • Brin MF, Koller W. 1998. Epidemiology and genetics of essential tremor. Mov Disord 13:55-63.
    • (1998) Mov Disord , vol.13 , pp. 55-63
    • Brin, M.F.1    Koller, W.2
  • 10
    • 5044245884 scopus 로고    scopus 로고
    • Premutation alleles associated with Parkinson disease and essential tremor
    • Deng H, Le W, Jankovic J. 2004. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 292:1685-1686.
    • (2004) JAMA , vol.292 , pp. 1685-1686
    • Deng, H.1    Le, W.2    Jankovic, J.3
  • 11
    • 23844440598 scopus 로고    scopus 로고
    • Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease
    • Deng H, Le WD, Guo Y, Huang MS, Xie WJ, Jankovic J. 2005. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology 65:651-652.
    • (2005) Neurology , vol.65 , pp. 651-652
    • Deng, H.1    Le, W.D.2    Guo, Y.3    Huang, M.S.4    Xie, W.J.5    Jankovic, J.6
  • 12
    • 0027375475 scopus 로고
    • Familial essential tremor and idiopathic torsion dystonia are different genetic entities
    • Durr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A. 1993. Familial essential tremor and idiopathic torsion dystonia are different genetic entities. Neurology 43:2212-2214.
    • (1993) Neurology , vol.43 , pp. 2212-2214
    • Durr, A.1    Stevanin, G.2    Jedynak, C.P.3    Penet, C.4    Agid, Y.5    Brice, A.6
  • 14
    • 0034643871 scopus 로고    scopus 로고
    • Epidemiology and genetics of essential tremor
    • Findley LJ. 2000. Epidemiology and genetics of essential tremor. Neurology 54:S8-S13.
    • (2000) Neurology , vol.54
    • Findley, L.J.1
  • 18
    • 0036654314 scopus 로고    scopus 로고
    • Genetics of parkinsonism
    • Gwinn-Hardy K. 2002. Genetics of parkinsonism. Mov Disord 17:645-656.
    • (2002) Mov Disord , vol.17 , pp. 645-656
    • Gwinn-Hardy, K.1
  • 19
    • 0030725721 scopus 로고    scopus 로고
    • A gene (ETM) for essential tremor maps to chromosome 2p22-p25
    • Higgins JJ, Pho LT, Nee LE. 1997. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 12:859-864.
    • (1997) Mov Disord , vol.12 , pp. 859-864
    • Higgins, J.J.1    Pho, L.T.2    Nee, L.E.3
  • 20
    • 0031769723 scopus 로고    scopus 로고
    • Evidence that a gene for essential tremor maps to chromosome 2p in four families
    • Higgins JJ, Loveless JM, Jankovic J, Patel PI. 1998. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord 13:972-977.
    • (1998) Mov Disord , vol.13 , pp. 972-977
    • Higgins, J.J.1    Loveless, J.M.2    Jankovic, J.3    Patel, P.I.4
  • 22
    • 2142754519 scopus 로고    scopus 로고
    • Higgins JJ, Lombardi RQ, Pucilowska J, Ruszczyk MU. 2004a. Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24. 3-p24.2. Am J Med Genet Part B Neuropsychiatr Genet 127B:128-130.
    • Higgins JJ, Lombardi RQ, Pucilowska J, Ruszczyk MU. 2004a. Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24. 3-p24.2. Am J Med Genet Part B Neuropsychiatr Genet 127B:128-130.
  • 27
    • 0024615894 scopus 로고
    • Essential tremor and Parkinson's disease
    • Jankovic J. 1989. Essential tremor and Parkinson's disease. Ann Neurol 25:211-212.
    • (1989) Ann Neurol , vol.25 , pp. 211-212
    • Jankovic, J.1
  • 28
    • 0036652657 scopus 로고    scopus 로고
    • Essential tremor: A heterogenous disorder
    • Jankovic J. 2002. Essential tremor: A heterogenous disorder. Mov Disord 17:638-644.
    • (2002) Mov Disord , vol.17 , pp. 638-644
    • Jankovic, J.1
  • 29
    • 14644428979 scopus 로고    scopus 로고
    • Genetic mouse models of essential tremor: Are they essential?
    • Jankovic J, Noebels JL. 2005. Genetic mouse models of essential tremor: Are they essential? J Clin Invest 115:584-586.
    • (2005) J Clin Invest , vol.115 , pp. 584-586
    • Jankovic, J.1    Noebels, J.L.2
  • 33
    • 22144448949 scopus 로고    scopus 로고
    • Sensorineural hearing loss, early greying, and essential tremor: A new hereditary syndrome?
    • Karmody CS, Blevins NH, Lalwani AK. 2005. Sensorineural hearing loss, early greying, and essential tremor: A new hereditary syndrome? Otolaryngol Head Neck Surg 133:94-99.
    • (2005) Otolaryngol Head Neck Surg , vol.133 , pp. 94-99
    • Karmody, C.S.1    Blevins, N.H.2    Lalwani, A.K.3
  • 34
    • 33644940889 scopus 로고    scopus 로고
    • Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea
    • Kim JH, Cho YH, Kim JK, Park YG, Chang JW. 2005. Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. Mov Disord 20:1650-1653.
    • (2005) Mov Disord , vol.20 , pp. 1650-1653
    • Kim, J.H.1    Cho, Y.H.2    Kim, J.K.3    Park, Y.G.4    Chang, J.W.5
  • 37
    • 0001745420 scopus 로고
    • Essential tremor: A clinical and genetic population study
    • Larsson T, Sjogren T. 1960. Essential tremor: A clinical and genetic population study. Acta Psychiatr Scand 36:1-176.
    • (1960) Acta Psychiatr Scand , vol.36 , pp. 1-176
    • Larsson, T.1    Sjogren, T.2
  • 38
    • 0016191188 scopus 로고
    • Parkinson's disease: A clinical review
    • Lieberman AN. 1974. Parkinson's disease: A clinical review. Am J Med Sci 267:66-80.
    • (1974) Am J Med Sci , vol.267 , pp. 66-80
    • Lieberman, A.N.1
  • 40
    • 0033772529 scopus 로고    scopus 로고
    • Essential tremor
    • Louis ED. 2000. Essential tremor. Arch Neurol 57:1522-1524.
    • (2000) Arch Neurol , vol.57 , pp. 1522-1524
    • Louis, E.D.1
  • 41
    • 12344292686 scopus 로고    scopus 로고
    • Essential tremor
    • Louis ED. 2005. Essential tremor. Lancet Neurol 4:100-110.
    • (2005) Lancet Neurol , vol.4 , pp. 100-110
    • Louis, E.D.1
  • 42
    • 0030012553 scopus 로고    scopus 로고
    • How familial is familial tremor? The genetic epidemiology of essential tremor
    • Louis ED, Ottman R. 1996. How familial is familial tremor? The genetic epidemiology of essential tremor. Neurology 46:1200-1205.
    • (1996) Neurology , vol.46 , pp. 1200-1205
    • Louis, E.D.1    Ottman, R.2
  • 43
    • 0030994322 scopus 로고    scopus 로고
    • The Washington heights-inwood genetic study of essential tremor: Methodologic issues in essential-tremor research
    • Louis ED, Ottman R, Ford B, Pullman S, Martinez M, Fahn S, Hauser WA. 1997. The Washington heights-inwood genetic study of essential tremor: Methodologic issues in essential-tremor research. Neuroepidemiology 16:124-133.
    • (1997) Neuroepidemiology , vol.16 , pp. 124-133
    • Louis, E.D.1    Ottman, R.2    Ford, B.3    Pullman, S.4    Martinez, M.5    Fahn, S.6    Hauser, W.A.7
  • 45
    • 0035297130 scopus 로고    scopus 로고
    • Family history information on essential tremor: Potential biases related to the source of the cases
    • Louis ED, Barnes LF, Ford B, Ottman R. 2001b. Family history information on essential tremor: Potential biases related to the source of the cases. Mov Disord 16:320-324.
    • (2001) Mov Disord , vol.16 , pp. 320-324
    • Louis, E.D.1    Barnes, L.F.2    Ford, B.3    Ottman, R.4
  • 46
    • 27744566324 scopus 로고    scopus 로고
    • Interaction between blood lead concentration and delta-amino-levulinic acid dehydratase gene polymorphisms increases the odds of essential tremor
    • Louis ED, Applegate L, Graziano JH, Parides M, Slavkovich V, Bhat HK. 2005. Interaction between blood lead concentration and delta-amino-levulinic acid dehydratase gene polymorphisms increases the odds of essential tremor. Mov Disord 20:1170-1177.
    • (2005) Mov Disord , vol.20 , pp. 1170-1177
    • Louis, E.D.1    Applegate, L.2    Graziano, J.H.3    Parides, M.4    Slavkovich, V.5    Bhat, H.K.6
  • 47
    • 24344484043 scopus 로고    scopus 로고
    • The value of supplemental prognostic tests for the preoperative assessment of idiopathic normal-pressure hydrocephalus
    • Discussion ii-v
    • Marmarou A, Bergsneider M, Klinge P, Relkin N, Black PM. 2005. The value of supplemental prognostic tests for the preoperative assessment of idiopathic normal-pressure hydrocephalus. Neurosurgery 57:S17-S28; Discussion ii-v.
    • (2005) Neurosurgery , vol.57
    • Marmarou, A.1    Bergsneider, M.2    Klinge, P.3    Relkin, N.4    Black, P.M.5
  • 48
    • 0020412870 scopus 로고
    • Essential tremor and buccolinguofacial dyskinesias
    • Martinelli P, Gabellini AS. 1982. Essential tremor and buccolinguofacial dyskinesias. Acta Neurol Scand 66:705-708.
    • (1982) Acta Neurol Scand , vol.66 , pp. 705-708
    • Martinelli, P.1    Gabellini, A.S.2
  • 49
    • 33646116183 scopus 로고    scopus 로고
    • Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus
    • Discussion 699-705
    • McGirt MJ, Woodworth G, Coon AL, Thomas G, Williams MA, Rigamonti D. 2005. Diagnosis, treatment, and analysis of long-term outcomes in idiopathic normal-pressure hydrocephalus. Neurosurgery 57:699-705; Discussion 699-705.
    • (2005) Neurosurgery , vol.57 , pp. 699-705
    • McGirt, M.J.1    Woodworth, G.2    Coon, A.L.3    Thomas, G.4    Williams, M.A.5    Rigamonti, D.6
  • 50
    • 0028432249 scopus 로고
    • Essential tremor: An overview
    • Metzer WS. 1994. Essential tremor: An overview. J Ark Med Soc 90:587-590.
    • (1994) J Ark Med Soc , vol.90 , pp. 587-590
    • Metzer, W.S.1
  • 51
    • 0019475416 scopus 로고    scopus 로고
    • Murray TJ. 1981. Essential tremor. Can Med Assoc J 124:1559-1565, 1570.
    • Murray TJ. 1981. Essential tremor. Can Med Assoc J 124:1559-1565, 1570.
  • 53
    • 33646259696 scopus 로고    scopus 로고
    • Association between restless legs syndrome and essential tremor
    • Ondo WG, Lai D. 2005. Association between restless legs syndrome and essential tremor. Mov Disord 21:515-518.
    • (2005) Mov Disord , vol.21 , pp. 515-518
    • Ondo, W.G.1    Lai, D.2
  • 54
    • 0042236596 scopus 로고    scopus 로고
    • Essential tremor: Differential diagnosis and current therapy
    • Pahwa R, Lyons KE. 2003. Essential tremor: Differential diagnosis and current therapy. Am J Med 115:134-142.
    • (2003) Am J Med , vol.115 , pp. 134-142
    • Pahwa, R.1    Lyons, K.E.2
  • 59
    • 12144283942 scopus 로고    scopus 로고
    • Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey
    • Sazci A, Ergul E, Bayulkem K. 2004. Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey. Mov Disord 19:1472-1476.
    • (2004) Mov Disord , vol.19 , pp. 1472-1476
    • Sazci, A.1    Ergul, E.2    Bayulkem, K.3
  • 60
    • 38849178907 scopus 로고
    • Hereditary problems in a family with essential hereditary tremor
    • Schade H. 1956. Hereditary problems in a family with essential hereditary tremor. Z Mensch Vererb Konstitutionsl 33:355-364.
    • (1956) Z Mensch Vererb Konstitutionsl , vol.33 , pp. 355-364
    • Schade, H.1
  • 61
    • 33645730896 scopus 로고    scopus 로고
    • Shatunov A, Jankovic J, Elble R, Sambuughin N, Singleton A, Hallett M, Goldfarb L. 2005. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 65:1995; author reply 1995.
    • Shatunov A, Jankovic J, Elble R, Sambuughin N, Singleton A, Hallett M, Goldfarb L. 2005. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 65:1995; author reply 1995.
  • 63
    • 4544357835 scopus 로고    scopus 로고
    • Essential tremor. Epidemiology, diagnosis, and treatment
    • Sullivan KL, Hauser RA, Zesiewicz TA. 2004. Essential tremor. Epidemiology, diagnosis, and treatment. Neurologist 10:250-258.
    • (2004) Neurologist , vol.10 , pp. 250-258
    • Sullivan, K.L.1    Hauser, R.A.2    Zesiewicz, T.A.3
  • 65
    • 0034646346 scopus 로고    scopus 로고
    • Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor?
    • Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, Ashizawa T. 2000. Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor? Neurology 54:1195-1198.
    • (2000) Neurology , vol.54 , pp. 1195-1198
    • Tan, E.K.1    Matsuura, T.2    Nagamitsu, S.3    Khajavi, M.4    Jankovic, J.5    Ashizawa, T.6
  • 66
    • 0022559544 scopus 로고
    • Performance-oriented assessment of mobility problems in elderly patients
    • Tinetti ME. 1986. Performance-oriented assessment of mobility problems in elderly patients. J Am Geriatr Soc 34:119-126.
    • (1986) J Am Geriatr Soc , vol.34 , pp. 119-126
    • Tinetti, M.E.1
  • 68
    • 34247185329 scopus 로고    scopus 로고
    • Evidence that congenital hydrocephalus is a precursor to idiopathic normal pressure hydrocephalus in only a subset of patients
    • Wilson RK, Williams MA. 2007. Evidence that congenital hydrocephalus is a precursor to idiopathic normal pressure hydrocephalus in only a subset of patients. J Neurol Neurosurg Psychiatry 78:508-511.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 508-511
    • Wilson, R.K.1    Williams, M.A.2
  • 69
    • 32644452763 scopus 로고    scopus 로고
    • Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease
    • Xiao Y, Zhang BS. 2006. Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:84-85.
    • (2006) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.23 , pp. 84-85
    • Xiao, Y.1    Zhang, B.S.2
  • 70


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.