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Volumn 59, Issue 5, 2003, Pages 331-338

Future directions in research with presymptomatic individuals carrying the gene for Huntington's disease

Author keywords

Disease onset; Ethical issues; Huntington's disease; Presymptomatic gene carriers; Therapeutic intervention

Indexed keywords

COGNITIVE DEFECT; DISEASE COURSE; GENE; HUMAN; HUNTINGTON CHOREA; MEDICAL ETHICS; MOOD DISORDER; MOTOR PERFORMANCE; ONSET AGE; PRIORITY JOURNAL; RESEARCH; REVIEW;

EID: 0037472335     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0361-9230(02)00877-8     Document Type: Review
Times cited : (16)

References (100)
  • 2
    • 0021260868 scopus 로고
    • Huntington disease: Genetics and epidemiology
    • Conneally P.M. Huntington disease: Genetics and epidemiology. Am. J. Hum. Genet. 36:1984;506-526.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 506-526
    • Conneally, P.M.1
  • 6
    • 0032534841 scopus 로고    scopus 로고
    • Characterization of the mouse Src homology 3 domain gene Sh3d2c on Chr 7 demonstrates coexpression with huntingtin in the brain and identifies the processed pseudogene Sh3d2c-ps1 on Chr 2
    • Zechner U., Scheel S., Hemberger M., Hopp M., Haaf T., Fundele R., Wanker E.E., Lehrach H., Wedemeyer N., Himmelbauer H. Characterization of the mouse Src homology 3 domain gene Sh3d2c on Chr 7 demonstrates coexpression with huntingtin in the brain and identifies the processed pseudogene Sh3d2c-ps1 on Chr 2. Genomics. 54:1998;505-510.
    • (1998) Genomics , vol.54 , pp. 505-510
    • Zechner, U.1    Scheel, S.2    Hemberger, M.3    Hopp, M.4    Haaf, T.5    Fundele, R.6    Wanker, E.E.7    Lehrach, H.8    Wedemeyer, N.9    Himmelbauer, H.10
  • 8
    • 0030897816 scopus 로고    scopus 로고
    • Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage
    • Sathasivam K., Amaechi I., Mangiarini L., Bates G. Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage. Hum. Genet. 99:1997;692-695.
    • (1997) Hum. Genet. , vol.99 , pp. 692-695
    • Sathasivam, K.1    Amaechi, I.2    Mangiarini, L.3    Bates, G.4
  • 9
    • 0029980133 scopus 로고    scopus 로고
    • Huntington disease - Another chapter rewritten
    • Nance M.A. Huntington disease - Another chapter rewritten. Am. J. Hum. Genet. 59:1996;16.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 16
    • Nance, M.A.1
  • 12
    • 0030855069 scopus 로고    scopus 로고
    • Clinical genetics, II. Huntington's disease: From the gene to pathophysiology
    • DiFiglia M. Clinical genetics, II. Huntington's disease: From the gene to pathophysiology. Am. J. Psychiatry. 154:1997;1046.
    • (1997) Am. J. Psychiatry , vol.154 , pp. 1046
    • DiFiglia, M.1
  • 14
    • 0033915110 scopus 로고    scopus 로고
    • Huntington's disease: Neurological assessment of potential gene carriers presenting for predictive DNA testing
    • McCusker E., Richard F., Sillence D., Wilson M., Trent R.J. Huntington's disease: Neurological assessment of potential gene carriers presenting for predictive DNA testing. J. Clin. Neurosci. 7:2000;38-41.
    • (2000) J. Clin. Neurosci. , vol.7 , pp. 38-41
    • McCusker, E.1    Richard, F.2    Sillence, D.3    Wilson, M.4    Trent, R.J.5
  • 15
    • 0025775450 scopus 로고
    • Age at onset in Huntington's disease: Effect of line of inheritance and patient's sex
    • Roos R.A.C., Vegter-van der Vlis M., Hermans J. Age at onset in Huntington's disease: Effect of line of inheritance and patient's sex. J. Med. Genet. 28:1991;515-519.
    • (1991) J. Med. Genet. , vol.28 , pp. 515-519
    • Roos, R.A.C.1    Vegter-van der Vlis, M.2    Hermans, J.3
  • 18
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew S.E., Goldberg Y.P., Kremer B. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4:1993;398-403.
    • (1993) Nat. Genet. , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 19
    • 0030935035 scopus 로고    scopus 로고
    • The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size
    • Brinkman R.R., Mezei M.M., Theilmann J., Almqvist E., Hayden M.R. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am. J. Hum. Genet. 60:1997;1202-1210.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1202-1210
    • Brinkman, R.R.1    Mezei, M.M.2    Theilmann, J.3    Almqvist, E.4    Hayden, M.R.5
  • 22
    • 0001941990 scopus 로고
    • Juvenile Huntington's chorea
    • Barbeau, A.; Brunette, J. R., eds. Amsterdam: Excerpta Medica Foundation
    • Merritt, A. D., Conneally, P. M., Rahman, N. F., Drew, A. L. Juvenile Huntington's chorea. In: Barbeau, A.; Brunette, J. R., eds. Progress in Neurogenetics. Amsterdam: Excerpta Medica Foundation, 1969:645-650.
    • (1969) Progress in Neurogenetics , pp. 645-650
    • Merritt, A.D.1    Conneally, P.M.2    Rahman, N.F.3    Drew, A.L.4
  • 23
    • 0015947551 scopus 로고
    • A sex related factor in the inheritance of Huntington's chorea
    • Bird E.D., Caro A.J., Pilling J.B. A sex related factor in the inheritance of Huntington's chorea. Ann. Hum. Genet. 37:1974;255-260.
    • (1974) Ann. Hum. Genet. , vol.37 , pp. 255-260
    • Bird, E.D.1    Caro, A.J.2    Pilling, J.B.3
  • 25
    • 0028234720 scopus 로고
    • Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset
    • Trottier Y., Biancalana V., Mandel J.L. Instability of CAG repeats in Huntington's disease: Relation to parental transmission and age of onset. J. Med. Genet. 31:1993;377-382.
    • (1993) J. Med. Genet. , vol.31 , pp. 377-382
    • Trottier, Y.1    Biancalana, V.2    Mandel, J.L.3
  • 26
    • 0031769658 scopus 로고    scopus 로고
    • Neurophysiological abnormalities in the Westphal variant of Huntington's disease
    • Topper R., Schwarz M., Lange H.W., Hefter H., Noth J. Neurophysiological abnormalities in the Westphal variant of Huntington's disease. Mov. Disord. 13:1998;920-928.
    • (1998) Mov. Disord. , vol.13 , pp. 920-928
    • Topper, R.1    Schwarz, M.2    Lange, H.W.3    Hefter, H.4    Noth, J.5
  • 29
    • 0030465540 scopus 로고    scopus 로고
    • Neuropsychological stability over 2 years in asymptomatic carriers of the Huntington's disease mutation
    • Campodonico J.R., Codori A.M., Brandt J. Neuropsychological stability over 2 years in asymptomatic carriers of the Huntington's disease mutation. J. Neurol. Neurosurg. Psychiatry. 61:1996;621-624.
    • (1996) J. Neurol. Neurosurg. Psychiatry , vol.61 , pp. 621-624
    • Campodonico, J.R.1    Codori, A.M.2    Brandt, J.3
  • 32
    • 0031747231 scopus 로고    scopus 로고
    • Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
    • Vuillaume I., Vermersch P., Destee A., Petit H., Sablonniere B. Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. J. Neurol. Neurosurg. Psychiatry. 64:1998;758-762.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.64 , pp. 758-762
    • Vuillaume, I.1    Vermersch, P.2    Destee, A.3    Petit, H.4    Sablonniere, B.5
  • 33
    • 0030069713 scopus 로고    scopus 로고
    • Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease
    • Furtado S., Suchowersky O., Rewcastle N.B., Graham L., Klimek M.L., Garber A. Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann. Neurol. 39:1996;132-136.
    • (1996) Ann. Neurol. , vol.39 , pp. 132-136
    • Furtado, S.1    Suchowersky, O.2    Rewcastle, N.B.3    Graham, L.4    Klimek, M.L.5    Garber, A.6
  • 34
    • 0030919726 scopus 로고    scopus 로고
    • CAG repeat number governs the development rate of pathology in Huntington's disease
    • Penney J.B., Vonsattel J.P., MacDonald M.E., Gusella J.F., Myers R.H. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann. Neurol. 41:1997;689-692.
    • (1997) Ann. Neurol. , vol.41 , pp. 689-692
    • Penney, J.B.1    Vonsattel, J.P.2    MacDonald, M.E.3    Gusella, J.F.4    Myers, R.H.5
  • 36
    • 0031594146 scopus 로고    scopus 로고
    • [1C]Raclopride-PET studies of the Huntington's disease rate of progression: Relevance of the trinucleotide repeat length
    • Antonini A., Leenders K.L., Eidelberg D. [1C]Raclopride-PET studies of the Huntington's disease rate of progression: Relevance of the trinucleotide repeat length. Ann. Neurol. 43:1998;253-255.
    • (1998) Ann. Neurol. , vol.43 , pp. 253-255
    • Antonini, A.1    Leenders, K.L.2    Eidelberg, D.3
  • 38
    • 0029925184 scopus 로고    scopus 로고
    • Trinucleotide repeat length and clinical progression in Huntington's disease
    • Brandt J., Bylsma F.W., Gross R., Stine O.C., Ranen N., Ross C.A. Trinucleotide repeat length and clinical progression in Huntington's disease. Neurology. 46:1996;527-531.
    • (1996) Neurology , vol.46 , pp. 527-531
    • Brandt, J.1    Bylsma, F.W.2    Gross, R.3    Stine, O.C.4    Ranen, N.5    Ross, C.A.6
  • 39
    • 0028815287 scopus 로고
    • Confidence intervals for predicted age of onset, given the size of the (CAG)n repeat, in Huntington's disease
    • Lucotte G., Turpin J.C., Riess O., Epplen J.T., Siedlaczk I., Loirat F., Hazout S. Confidence intervals for predicted age of onset, given the size of the (CAG)n repeat, in Huntington's disease. Hum. Genet. 92:1995;231-232.
    • (1995) Hum. Genet. , vol.92 , pp. 231-232
    • Lucotte, G.1    Turpin, J.C.2    Riess, O.3    Epplen, J.T.4    Siedlaczk, I.5    Loirat, F.6    Hazout, S.7
  • 41
    • 0020026081 scopus 로고
    • Progression rate and age at onset are related in autosomal dominant neurological diseases
    • Currier R.D., Jackson J.F., Meydrech E.F. Progression rate and age at onset are related in autosomal dominant neurological diseases. Neurology. 32:1982;907-909.
    • (1982) Neurology , vol.32 , pp. 907-909
    • Currier, R.D.1    Jackson, J.F.2    Meydrech, E.F.3
  • 42
    • 0018303366 scopus 로고
    • Huntington disease: Clinical care and evaluation
    • Shoulson I., Fahn S. Huntington disease: Clinical care and evaluation. Neurology. 29:1979;1-3.
    • (1979) Neurology , vol.29 , pp. 1-3
    • Shoulson, I.1    Fahn, S.2
  • 53
    • 85009332113 scopus 로고    scopus 로고
    • Unified Huntington's Disease Rating Scale: Reliability and consistency
    • Huntington Study Group. Unified Huntington's Disease Rating Scale: Reliability and consistency. Mov. Disord. 11:136-142; 1996.
    • (1996) Mov. Disord. , vol.11 , pp. 136-142
  • 55
    • 0028799793 scopus 로고
    • Early loss of neostriatal neurons in Huntington's disease
    • Hedreen J.C., Folstein S.E. Early loss of neostriatal neurons in Huntington's disease. J. Neuropathol. Exp. Neurol. 54:1995;105-120.
    • (1995) J. Neuropathol. Exp. Neurol. , vol.54 , pp. 105-120
    • Hedreen, J.C.1    Folstein, S.E.2
  • 56
    • 0028957560 scopus 로고
    • Reduced expression of preproenkephalin in striatal neurons from Huntington's disease patients
    • Richfield E.K., Maguire-Zeiss K.A., Cox C., Gilmore J., Voorn P. Reduced expression of preproenkephalin in striatal neurons from Huntington's disease patients. Ann. Neurol. 37:1995;335-343.
    • (1995) Ann. Neurol. , vol.37 , pp. 335-343
    • Richfield, E.K.1    Maguire-Zeiss, K.A.2    Cox, C.3    Gilmore, J.4    Voorn, P.5
  • 57
    • 0035353742 scopus 로고    scopus 로고
    • Open interconnected model of basal ganglia-thalamocortical circuitry and its relevance to the clinical syndrome of Huntington's disease
    • Joel D. Open interconnected model of basal ganglia-thalamocortical circuitry and its relevance to the clinical syndrome of Huntington's disease. Mov. Disord. 16:2001;407-423.
    • (2001) Mov. Disord. , vol.16 , pp. 407-423
    • Joel, D.1
  • 62
    • 0000044740 scopus 로고    scopus 로고
    • [c-11] raclopride striatal binding potential as a measure of Huntington's disease progression: Implications for prospective neuroprotective studies
    • Hussey D., Stewart D., Houle S., Guttman M. [c-11] raclopride striatal binding potential as a measure of Huntington's disease progression: Implications for prospective neuroprotective studies. J. Nucl. Med. 39(suppl.):1998;209P.
    • (1998) J. Nucl. Med. , vol.39 , Issue.SUPPL.
    • Hussey, D.1    Stewart, D.2    Houle, S.3    Guttman, M.4
  • 63
    • 0033947792 scopus 로고    scopus 로고
    • Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene
    • Kirkwood S.C., Siemers E., Bond C., Coneally P.M., Christian J.C., Foroud T. Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene. Arch. Neurol. 57:2000;1040-1044.
    • (2000) Arch. Neurol. , vol.57 , pp. 1040-1044
    • Kirkwood, S.C.1    Siemers, E.2    Bond, C.3    Coneally, P.M.4    Christian, J.C.5    Foroud, T.6
  • 64
    • 0029093037 scopus 로고
    • Neuropsychological characteristics of Huntington's disease carriers: A double blind study
    • Rosenberg N.K., Sorensen S.A., Christensen A. Neuropsychological characteristics of Huntington's disease carriers: A double blind study. J. Med. Genet. 32:1995;600-604.
    • (1995) J. Med. Genet. , vol.32 , pp. 600-604
    • Rosenberg, N.K.1    Sorensen, S.A.2    Christensen, A.3
  • 71
    • 0034598808 scopus 로고    scopus 로고
    • Motor disorder in Huntington's disease begins as a dysfunction in error feedback control
    • Smith M.A., Brandt J., Shadmehr R. Motor disorder in Huntington's disease begins as a dysfunction in error feedback control. Nature. 403:2000;544-549.
    • (2000) Nature , vol.403 , pp. 544-549
    • Smith, M.A.1    Brandt, J.2    Shadmehr, R.3
  • 73
    • 0029059308 scopus 로고
    • Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease
    • Blackmore L., Simpson S.A., Crawford J.R. Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease. J. Med. Genet. 32:1995;358-362.
    • (1995) J. Med. Genet. , vol.32 , pp. 358-362
    • Blackmore, L.1    Simpson, S.A.2    Crawford, J.R.3
  • 74
    • 0030050022 scopus 로고    scopus 로고
    • Visual processing disorders in patients with HD and asymptomatic carriers
    • Gomez-Tortosa E., del Barrio A., Barroso T., Garcia Ruiz P.J. Visual processing disorders in patients with HD and asymptomatic carriers. J. Neurol. 243:1996;286-292.
    • (1996) J. Neurol. , vol.243 , pp. 286-292
    • Gomez-Tortosa, E.1    Del Barrio, A.2    Barroso, T.3    Garcia Ruiz, P.J.4
  • 75
    • 0018425438 scopus 로고
    • A new depression scale designed to be sensitive to change
    • Montgomery S.A., Asberg M. A new depression scale designed to be sensitive to change. Br. J. Psychiatry. 134:1979;382-389.
    • (1979) Br. J. Psychiatry , vol.134 , pp. 382-389
    • Montgomery, S.A.1    Asberg, M.2
  • 76
    • 0001084760 scopus 로고
    • Primary depression or primary anxiety? A possible psychometric approach to a diagnostic dilemma
    • Covi L., Lipman R.S. Primary depression or primary anxiety? A possible psychometric approach to a diagnostic dilemma. Clin. Neuropharmacol. 7:1984;924-925.
    • (1984) Clin. Neuropharmacol. , vol.7 , pp. 924-925
    • Covi, L.1    Lipman, R.S.2
  • 77
    • 0018692003 scopus 로고
    • Profile of Mood States: The factors and their physiological correlates
    • Pollock V., Cho D.W., Reker D., Volavka J. Profile of Mood States: The factors and their physiological correlates. J. Nerv. Ment. Dis. 167:1979;612-614.
    • (1979) J. Nerv. Ment. Dis. , vol.167 , pp. 612-614
    • Pollock, V.1    Cho, D.W.2    Reker, D.3    Volavka, J.4
  • 78
    • 0027934078 scopus 로고
    • A controlled psychiatric study of individuals at risk for Huntington's disease
    • Shiwach R.S., Norbury C.G. A controlled psychiatric study of individuals at risk for Huntington's disease. Br. J. Psychiatry. 165:1994;500-505.
    • (1994) Br. J. Psychiatry , vol.165 , pp. 500-505
    • Shiwach, R.S.1    Norbury, C.G.2
  • 79
    • 0002496320 scopus 로고
    • Cognitive impairments associated with Parkinson's disease and other movement disorders
    • Jankovic, J.; Tolosa, E., eds. Baltimore: Williams & Wilkins
    • Pirozzolo, F. J.; Swihart, A. A.; Rey, G. J.; Mahurin, R.; Jankovic, J. Cognitive impairments associated with Parkinson's disease and other movement disorders. In: Jankovic, J.; Tolosa, E., eds. Parkinsons's disease and movement disorders, 2nd ed. Baltimore: Williams & Wilkins; 1993:493-510.
    • (1993) Parkinsons's Disease and Movement Disorders, 2nd Ed. , pp. 493-510
    • Pirozzolo, F.J.1    Swihart, A.A.2    Rey, G.J.3    Mahurin, R.4    Jankovic, J.5
  • 80
    • 0024493002 scopus 로고
    • The motivation of at risk individuals and their partners in deciding for or against predictive testing for Huntington's disease
    • Evers-Kieboom G., Swerts A., Cassiman J.J., Van den Berghe H. The motivation of at risk individuals and their partners in deciding for or against predictive testing for Huntington's disease. Clin. Genet. 35:1989;29-40.
    • (1989) Clin. Genet. , vol.35 , pp. 29-40
    • Evers-Kieboom, G.1    Swerts, A.2    Cassiman, J.J.3    Van den Berghe, H.4
  • 81
  • 82
    • 0027489292 scopus 로고
    • Presymptomatic testing for Huntington's disease: A world-wide survey
    • World Federation of Neurology Research Group on Huntington's Disease. Presymptomatic testing for Huntington's disease: A world-wide survey. J. Med. Genet. 30:1020-1022; 1993.
    • (1993) J. Med. Genet. , vol.30 , pp. 1020-1022
  • 86
    • 0027491282 scopus 로고
    • Ethical and social issues in presymptomatic testing for Huntington's Disease: A European Community Collaborative Study
    • European Community Huntington's Disease Collaborative Study Group. Ethical and social issues in presymptomatic testing for Huntington's Disease: A European Community Collaborative Study. J. Med. Genet. 30:1028-1035; 1993.
    • (1993) J. Med. Genet. , vol.30 , pp. 1028-1035
  • 87
    • 0029829583 scopus 로고    scopus 로고
    • Huntington's disease predictive testing: The case for an assessment approach to requests from adolescents
    • Binedell J., Soldan J.R., Scourfield J., Harper P.S. Huntington's disease predictive testing: The case for an assessment approach to requests from adolescents. J. Med. Genet. 33:1996;912-918.
    • (1996) J. Med. Genet. , vol.33 , pp. 912-918
    • Binedell, J.1    Soldan, J.R.2    Scourfield, J.3    Harper, P.S.4
  • 89
    • 0026702252 scopus 로고
    • The Tiresias complex: Huntington's disease as a paradigm of testing for late onset disorders
    • Wexler N.S. The Tiresias complex: Huntington's disease as a paradigm of testing for late onset disorders. FASEB J. 6:1992;2820-2825.
    • (1992) FASEB J. , vol.6 , pp. 2820-2825
    • Wexler, N.S.1
  • 97
    • 0029995487 scopus 로고    scopus 로고
    • Antioxidant treatment protects striatal neurons against excitotoxic insults
    • Nakao N., Grasbon-Frodl E., Widner H., Brundin P. Antioxidant treatment protects striatal neurons against excitotoxic insults. Neuroscience. 73:1996;185.
    • (1996) Neuroscience , vol.73 , pp. 185
    • Nakao, N.1    Grasbon-Frodl, E.2    Widner, H.3    Brundin, P.4
  • 98
    • 0031044805 scopus 로고    scopus 로고
    • Energy metabolism defects in Huntington's disease and effects of coenzyme Q10
    • Koroshetz W.J., Jenkins B.G., Rosen B.R., Beal M.F. Energy metabolism defects in Huntington's disease and effects of coenzyme Q10. Ann. Neurol. 41:1997;160-165.
    • (1997) Ann. Neurol. , vol.41 , pp. 160-165
    • Koroshetz, W.J.1    Jenkins, B.G.2    Rosen, B.R.3    Beal, M.F.4
  • 99
    • 0031773636 scopus 로고    scopus 로고
    • Advances in the understanding of early Huntington's Disease using the functional imaging techniques of PET and SPET
    • Andrews, T. C.; Brooks, D. J. Advances in the understanding of early Huntington's Disease using the functional imaging techniques of PET and SPET. Mol. Med. Today. 4:532-539; 1998.
    • (1998) Mol. Med. Today. , vol.4 , pp. 532-539
    • Andrews, T.C.1    Brooks, D.J.2


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