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Volumn 63, Issue , 2012, Pages 1-22

Huntington's disease: Advocacy driving science

Author keywords

Gene Hunters; Hereditary Disease Foundation; Human genetics; Huntingtin; Kindreds; Venezuela

Indexed keywords

ALPHA TOCOPHEROL; BACLOFEN; CREATINE; HALOPERIDOL; HUNTINGTIN; IDEBENONE; LAMOTRIGINE; MINOCYCLINE; POLYGLUTAMINE; REMACEMIDE; RILUZOLE; SEROTONIN UPTAKE INHIBITOR; TETRABENAZINE; UBIQUINONE;

EID: 84855973422     PISSN: 00664219     EISSN: 1545326X     Source Type: Book Series    
DOI: 10.1146/annurev-med-050710-134457     Document Type: Review
Times cited : (28)

References (54)
  • 1
    • 84855975770 scopus 로고    scopus 로고
    • Hereditary disease foundation
    • Bloomington, IN: Xlibris Corp
    • Wexler M. 2002. Hereditary Disease Foundation. In A Look Through the Rearview Mirror, pp. 331-37. Bloomington, IN: Xlibris Corp. 343 pp.
    • (2002) A Look Through the Rearview Mirror , vol.343 , pp. 331-337
    • Wexler, M.1
  • 3
    • 84855940872 scopus 로고    scopus 로고
    • Hereditary Disease Foundation
    • Hereditary Disease Foundation. http://www.hdfoundation.org
  • 4
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein D, White RL, Skolnick M, et al. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 32(3):314-31 (Pubitemid 11105557)
    • (1980) American Journal of Human Genetics , vol.32 , Issue.3 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 5
    • 0015989544 scopus 로고
    • Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts.Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
    • Brown MS, Dana SE, Goldstein JL. 1974. Regulation of 3-hydroxy-3- methylglutaryl coenzyme A reductase activity in cultured human fibroblasts.Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J. Biol. Chem. 249(3):789-96
    • (1974) J. Biol. Chem , vol.249 , Issue.3 , pp. 789-796
    • Brown, M.S.1    Dana, S.E.2    Goldstein, J.L.3
  • 6
    • 0005987758 scopus 로고
    • Centennial Symposium on Huntington's Chorea
    • 1973. Centennial Symposium on Huntington's Chorea. Adv. Neurol. 1:4-5
    • (1973) Adv. Neurol , vol.1 , pp. 4-5
  • 8
    • 85009332113 scopus 로고    scopus 로고
    • Unified Huntington's Disease Rating Scale: Reliability and consistency
    • Huntington Study Group
    • Huntington Study Group. 1996. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov. Disord. 11(2):136-42
    • (1996) Mov. Disord , vol.11 , Issue.2 , pp. 136-142
  • 9
    • 0022620244 scopus 로고
    • Huntington's disease in Venezuela: Neurologic features and functional decline
    • Young AB, Shoulson I, Penney JB, et al. 1986. Huntington's disease in Venezuela: neurologic features and functional decline. Neurology 36:244-49 (Pubitemid 16124216)
    • (1986) Neurology , vol.36 , Issue.2 , pp. 244-249
    • Young, A.B.1    Shoulson, I.2    Penney, J.B.3
  • 11
    • 0021028244 scopus 로고
    • A polymorphic DNA marker genetically linked to Huntington's disease
    • Gusella JF, Wexler NS, Conneally PM, et al. 1983. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306(5940):234-38 (Pubitemid 14232350)
    • (1983) Nature , vol.306 , Issue.5940 , pp. 234-238
    • Gusella, J.F.1    Wexler, N.S.2    Conneally, P.M.3
  • 13
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-83
    • (1993) Cell , vol.72 , pp. 971-983
  • 14
    • 84916543904 scopus 로고
    • Researchers locate gene that triggers Huntington's illness
    • Mar 24
    • Angier N. 1993. Researchers locate gene that triggers Huntington's illness. New York Times, Mar. 24, p. A1
    • (1993) New York Times
    • Angier, N.1
  • 15
    • 12144288251 scopus 로고    scopus 로고
    • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • The US-Venezuela Collaborative Research Project and Wexler NS
    • The US-Venezuela Collaborative Research Project and Wexler NS. 2004. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Natl. Acad. Sci. USA 101(15):3498-503
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , Issue.15 , pp. 3498-503
  • 16
    • 0023115076 scopus 로고
    • Homozygotes forHuntington's disease
    • Wexler NS, Young AB, Tanzi RE, et al. 1987. Homozygotes forHuntington's disease. Nature 326:194-97
    • (1987) Nature , vol.326 , pp. 194-197
    • Wexler, N.S.1    Young, A.B.2    Tanzi, R.E.3
  • 17
    • 0027240431 scopus 로고
    • Trinucleotide repeat length: Instability and age of onset in Huntington's disease
    • Duyao MP, Ambrose CM, Myers RH, et al. 1993. Trinucleotide repeat length: instability and age of onset in Huntington's disease. Nat. Genet. 4:387-92
    • (1993) Nat. Genet , vol.4 , pp. 387-392
    • Duyao, M.P.1    Ambrose, C.M.2    Myers, R.H.3
  • 18
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
    • Leeflang EP, Zhang L, Tavaŕe S, et al. 1995. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet. 4(9):1519-26
    • (1995) Hum. Mol. Genet , vol.4 , Issue.9 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavaŕe, S.3
  • 20
    • 34247120606 scopus 로고    scopus 로고
    • The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset
    • Andresen JM, Gaýan J, Djousśe L, et al. 2006. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann. Hum. Gen. 71:295-301
    • (2006) Ann. Hum. Gen , vol.71 , pp. 295-301
    • Andresen, J.M.1    Gaýan, J.2    Djousśe, L.3
  • 21
    • 48949118889 scopus 로고    scopus 로고
    • Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds
    • Gaýan J, Brocklebank D, Andresen JM, et al. 2008. Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genet. Epidemiol. 32(5):445-53
    • (2008) Genet. Epidemiol , vol.32 , Issue.5 , pp. 445-453
    • Gaýan, J.1    Brocklebank, D.2    Andresen, J.M.3
  • 22
    • 63449116726 scopus 로고    scopus 로고
    • Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications
    • Brocklebank D, Gaýan J, Andresen JM, et al. 2009. Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications. Am. J. Med. Genet. B Neuropsychiatr Genet. 150B(3):425-29
    • (2009) Am. J. Med. Genet. B Neuropsychiatr Genet. , vol.150 B , Issue.3 , pp. 425-429
    • Brocklebank, D.1    Gaýan, J.2    Andresen, J.M.3
  • 26
    • 0034737299 scopus 로고    scopus 로고
    • Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease
    • Yamamoto A, Lucas JJ, Hen R. 2000. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101(1):57-66
    • (2000) Cell , vol.101 , Issue.1 , pp. 57-66
    • Yamamoto, A.1    Lucas, J.J.2    Hen, R.3
  • 27
    • 70350543879 scopus 로고    scopus 로고
    • Intrabody gene therapy ameliorates motor, cognitive, and neuropathological symptoms in multiple mouse models of Huntington's disease
    • Southwell AL, Ko J, Patterson PH. 2009. Intrabody gene therapy ameliorates motor, cognitive, and neuropathological symptoms in multiple mouse models of Huntington's disease. J. Neurosci. 29(43):13589-602
    • (2009) J. Neurosci , vol.29 , Issue.43 , pp. 13589-602
    • Southwell, A.L.1    Ko, J.2    Patterson, P.H.3
  • 28
    • 77957930942 scopus 로고    scopus 로고
    • Early or late-stage anti-N-terminal Huntingtin intrabody gene therapy reduces pathological features in B6. HDR6/1 mice
    • Snyder-Keller A, McLear JA, Hathorn T, et al. 2010. Early or late-stage anti-N-terminal Huntingtin intrabody gene therapy reduces pathological features in B6. HDR6/1 mice. J. Neuropathol. Exp. Neurol. 69(10):1078-85
    • (2010) J. Neuropathol. Exp. Neurol. , vol.69 , Issue.10 , pp. 1078-1085
    • Snyder-Keller, A.1    McLear, J.A.2    Hathorn, T.3
  • 29
    • 71449084004 scopus 로고    scopus 로고
    • The chaperonin TRiC blocks a huntingtin sequence element that promotes the conformational switch to aggregation
    • Tam S, Spiess C, Auyeung W, et al. 2009. The chaperonin TRiC blocks a huntingtin sequence element that promotes the conformational switch to aggregation. Nat. Struct. Mol. Biol. 16(12):1279-85
    • (2009) Nat. Struct. Mol. Biol , vol.16 , Issue.12 , pp. 1279-1285
    • Tam, S.1    Spiess, C.2    Auyeung, W.3
  • 30
    • 72149124383 scopus 로고    scopus 로고
    • IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome
    • Thompson LM, Aiken CT, Kaltenbach LS, et al. 2009. IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J. Cell Biol. 187(7):1083-99
    • (2009) J. Cell Biol , vol.187 , Issue.7 , pp. 1083-1099
    • Thompson, L.M.1    Aiken, C.T.2    Kaltenbach, L.S.3
  • 31
    • 46749157501 scopus 로고    scopus 로고
    • Full length human mutant Huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice
    • Gray M, Shirasaki DI, Cepeda C, et al. 2008. Full length human mutant Huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J. Neurosci. 28:6182-95
    • (2008) J. Neurosci , vol.28 , pp. 6182-6195
    • Gray, M.1    Shirasaki, D.I.2    Cepeda, C.3
  • 32
    • 72149107077 scopus 로고    scopus 로고
    • Serines 13 and 16 are critical determinants of full-length human mutant huntingtin induced disease pathogenesis in HD mice
    • Gu X, Greiner ER, Mishra R, et al. 2009. Serines 13 and 16 are critical determinants of full-length human mutant huntingtin induced disease pathogenesis in HD mice. Neuron 64(6):828-40
    • (2009) Neuron , vol.64 , Issue.6 , pp. 828-840
    • Gu, X.1    Greiner, E.R.2    Mishra, R.3
  • 34
    • 67349159137 scopus 로고    scopus 로고
    • Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients
    • Pfister EL, Kennington L, Straubhaar J, et al. 2009. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr. Biol. 19(9):774-78
    • (2009) Curr. Biol , vol.19 , Issue.9 , pp. 774-778
    • Pfister, E.L.1    Kennington, L.2    Straubhaar, J.3
  • 35
    • 20944431926 scopus 로고    scopus 로고
    • Pathological cell-cell interactions elicited by a neuropathogenic form of mutant huntingtin contribute to cortical pathogenesis in HD mice
    • DOI 10.1016/j.neuron.2005.03.025, PII S0896627305003089
    • Gu X, Li C, Wei W, et al. 2005. Pathological cell-cell interactions elicited by a neuropathogenic form of mutant Huntingtin contribute to cortical pathogenesis in HD mice. Neuron 46(3):433-44 (Pubitemid 40616887)
    • (2005) Neuron , vol.46 , Issue.3 , pp. 433-444
    • Gu, X.1    Li, C.2    Wei, W.3    Lo, V.4    Gong, S.5    Li, S.-H.6    Iwasato, T.7    Itohara, S.8    Li, X.-J.9    Mody, I.10    Heintz, N.11    Yang, X.W.12
  • 36
    • 34249864115 scopus 로고    scopus 로고
    • Pathological cell-cell interactions are necessary for striatal pathogenesis in a conditional mouse model of Huntington's disease
    • Gu X, Andŕe VM, Cepeda C, et al. 2007. Pathological cell-cell interactions are necessary for striatal pathogenesis in a conditional mouse model of Huntington's disease. Mol. Neurodegener. 2:8
    • (2007) Mol. Neurodegener , vol.2 , pp. 8
    • Gu, X.1    Andŕe, V.M.2    Cepeda, C.3
  • 38
    • 0028856571 scopus 로고
    • Trial of d-alpha-tocopherol in Huntington's disease
    • Peyser CE, Folstein M, Chase GA, et al. 1995. Trial of d-alpha-tocopherol in Huntington's disease. Am. J. Psychiatry 152(12):1771-75
    • (1995) Am. J. Psychiatry , vol.152 , Issue.12 , pp. 1771-1775
    • Peyser, C.E.1    Folstein, M.2    Chase, G.A.3
  • 41
    • 85009226418 scopus 로고    scopus 로고
    • A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease
    • Huntington Study Group
    • Huntington Study Group. 2001. A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease. Neurology 57(3):397-404
    • (2001) Neurology , vol.57 , Issue.3 , pp. 397-404
  • 45
    • 78649369122 scopus 로고    scopus 로고
    • A futility study of minocycline inHuntington's disease
    • Huntington Study Group DOMINO Investigators
    • Huntington Study Group DOMINO Investigators. 2010. A futility study of minocycline inHuntington's disease. Mov. Disord. 25(13):2219-24
    • (2010) Mov. Disord. , vol.25 , Issue.13 , pp. 2219-2224
  • 47
    • 33645798913 scopus 로고    scopus 로고
    • Tetrabenazine as antichorea therapy inHuntington disease: A randomized controlled trial
    • Huntington Study Group
    • Huntington Study Group. 2006. Tetrabenazine as antichorea therapy inHuntington disease: a randomized controlled trial. Neurology 66(3):366-72
    • (2006) Neurology , vol.66 , Issue.3 , pp. 366-372
  • 48
    • 0022388363 scopus 로고
    • A comparison of the frequency of major affective disorder in Huntington's disease and Alzheimer's disease
    • Mindham RH, Steele C, Folstein MF, et al. 1985. A comparison of the frequency of major affective disorder in Huntington's disease and Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry 48(11):1172-74 (Pubitemid 16248156)
    • (1985) Journal of Neurology Neurosurgery and Psychiatry , vol.48 , Issue.11 , pp. 1172-1174
    • Mindham, R.H.S.1    Steele, C.2    Folstein, M.F.3    Lucas, J.4
  • 49
    • 16844372215 scopus 로고    scopus 로고
    • Critical periods of suicide risk in Huntington's disease
    • DOI 10.1176/appi.ajp.162.4.725
    • Paulson JS, Hoth KF, Nehl C, et al. 2005. Critical periods of suicide risk in Huntington's disease. Am. J. Psychiatry 162(4):725-31 (Pubitemid 40489135)
    • (2005) American Journal of Psychiatry , vol.162 , Issue.4 , pp. 725-731
    • Paulsen, J.S.1    Hoth, K.F.2    Nehl, C.3    Stierman, L.4
  • 51
    • 77954746528 scopus 로고    scopus 로고
    • Stigma, history, and Huntington's disease
    • Wexler AR. 2010. Stigma, history, and Huntington's disease. Lancet 376(9734):18-19
    • (2010) Lancet , vol.376 , Issue.9734 , pp. 18-19
    • Wexler, A.R.1
  • 53
    • 0001188659 scopus 로고
    • Huntington's chorea in relation to heredity and eugenics
    • Davenport CB, Muncey EB. 1916. Huntington's chorea in relation to heredity and eugenics. Am. J. Psychiatry 2:195
    • (1916) Am. J. Psychiatry , vol.2 , pp. 195
    • Davenport, C.B.1    Muncey, E.B.2
  • 54
    • 0003172179 scopus 로고
    • Huntington's chorea and East Anglia
    • Critchley M. 1934. Huntington's chorea and East Anglia. J. State Med. 42:575-87
    • (1934) J. State Med , vol.42 , pp. 575-587
    • Critchley, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.