메뉴 건너뛰기




Volumn 21, Issue 12, 2006, Pages 1068-1073

Huntington disease in a 9-year-old boy: Clinical course and neuropathologic examination

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; VALPROIC ACID;

EID: 33846338751     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/7010.2006.00244     Document Type: Article
Times cited : (17)

References (27)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome
    • Huntington's Disease Collaborative Research Group
    • Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosome. Cell 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 0041630698 scopus 로고    scopus 로고
    • XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease
    • Milunsky JM, Maher TA, Loose BA, et al: XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin Genet 2003;64:70-73.
    • (2003) Clin Genet , vol.64 , pp. 70-73
    • Milunsky, J.M.1    Maher, T.A.2    Loose, B.A.3
  • 4
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinstein DC, Leggo, J, Coles R, et al: Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinstein, D.C.1    Leggo, J.2    Coles, R.3
  • 5
    • 0027519511 scopus 로고
    • Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the CCG-rich stretches and a correlation between decreased age of onset of Huntington disease and CAG repeats number
    • Rubinsztein DC, Barton DE, Davison BC, Ferguson-Smith M: Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the CCG-rich stretches and a correlation between decreased age of onset of Huntington disease and CAG repeats number. Hum Mol Genet 1993;2:1713-1715.
    • (1993) Hum Mol Genet , vol.2 , pp. 1713-1715
    • Rubinsztein, D.C.1    Barton, D.E.2    Davison, B.C.3    Ferguson-Smith, M.4
  • 6
    • 0028800308 scopus 로고
    • Trinucleotide repeat disorders in pediatrics
    • O'Donnel DM, Zoghbi HY: Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr 1995;7:715-725.
    • (1995) Curr Opin Pediatr , vol.7 , pp. 715-725
    • O'Donnel, D.M.1    Zoghbi, H.Y.2
  • 7
    • 0034847765 scopus 로고    scopus 로고
    • Juvenile onset Huntington's disease - Clinical and research perspectives
    • Nance MA, Myers RH: Juvenile onset Huntington's disease - Clinical and research perspectives. Ment Retard Dev Disabil Res Rev 2001;7: 153-157.
    • (2001) Ment Retard Dev Disabil Res Rev , vol.7 , pp. 153-157
    • Nance, M.A.1    Myers, R.H.2
  • 8
    • 0033556344 scopus 로고    scopus 로고
    • Analysis of very large trinucleotide repeat in patient with juvenile Huntington's disease
    • Nance MA, Mathis-Hagen V, Breningstall G, et al: Analysis of very large trinucleotide repeat in patient with juvenile Huntington's disease. Neurology 1999;52:392-394.
    • (1999) Neurology , vol.52 , pp. 392-394
    • Nance, M.A.1    Mathis-Hagen, V.2    Breningstall, G.3
  • 9
    • 0036080240 scopus 로고    scopus 로고
    • Chorea Huntington: A rare case with childhood onset
    • Gencik M, Hammans C, Strehl H, et al: Chorea Huntington: A rare case with childhood onset. Neuropediatrics 2002;33:90-92.
    • (2002) Neuropediatrics , vol.33 , pp. 90-92
    • Gencik, M.1    Hammans, C.2    Strehl, H.3
  • 10
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansion and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B, Almquist E, Theilmann J, et al: Sex-dependent mechanisms for expansion and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 1995;57:343-350.
    • (1995) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almquist, E.2    Theilmann, J.3
  • 11
    • 0042115272 scopus 로고    scopus 로고
    • Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
    • Chong SS, Almquist E, Telenius H, et al: Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses. Hum Mol Genet 1997;62:301-309.
    • (1997) Hum Mol Genet , vol.62 , pp. 301-309
    • Chong, S.S.1    Almquist, E.2    Telenius, H.3
  • 12
    • 1542350108 scopus 로고    scopus 로고
    • Genetic and environmental factors in the pathogenesis of Huntington's disease
    • van Dellen A, Hannan A: Genetic and environmental factors in the pathogenesis of Huntington's disease. Neurogenetics 2004;5:9-17.
    • (2004) Neurogenetics , vol.5 , pp. 9-17
    • van Dellen, A.1    Hannan, A.2
  • 13
    • 0037069280 scopus 로고    scopus 로고
    • Weight loss in early stage of Huntington's disease
    • Djousse L, Knowlton B, Cupples LA, et al: Weight loss in early stage of Huntington's disease. Neurology 2002;59:1325-1330.
    • (2002) Neurology , vol.59 , pp. 1325-1330
    • Djousse, L.1    Knowlton, B.2    Cupples, L.A.3
  • 14
    • 0345327753 scopus 로고    scopus 로고
    • Huntington's disease. Clinical correlates of disability and progression
    • Mahant N, McCusker EA, Byth K, Graham S: Huntington's disease. Clinical correlates of disability and progression. Neurology 2003;61: 1085-1092.
    • (2003) Neurology , vol.61 , pp. 1085-1092
    • Mahant, N.1    McCusker, E.A.2    Byth, K.3    Graham, S.4
  • 15
    • 0035964380 scopus 로고    scopus 로고
    • Juvenile Huntington's disease presenting as progressive myoclonic epilepsy
    • Gambardella A, Muglia M, Labate A, et al: Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. Neurology 2001;57:708-711.
    • (2001) Neurology , vol.57 , pp. 708-711
    • Gambardella, A.1    Muglia, M.2    Labate, A.3
  • 16
    • 0033708960 scopus 로고    scopus 로고
    • Huntington disease: New insights on the role of huntingtin cleavage
    • Wellington CL, Leavitt BR, Hayden MR: Huntington disease: New insights on the role of huntingtin cleavage. J Neural Transm Suppl 2000;58:1-17.
    • (2000) J Neural Transm Suppl , vol.58 , pp. 1-17
    • Wellington, C.L.1    Leavitt, B.R.2    Hayden, M.R.3
  • 19
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
    • Warner JP, Barron LH, Brock DJH: A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-239.
    • (1993) Mol Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.H.3
  • 21
    • 24344482766 scopus 로고    scopus 로고
    • Juvenile onset Huntington disease resulting from a very large maternal expansion
    • Nahhas FA, Gerbern J, Krajewski KM, et al: Juvenile onset Huntington disease resulting from a very large maternal expansion. Am J Med Genet 2005;137:328-331.
    • (2005) Am J Med Genet , vol.137 , pp. 328-331
    • Nahhas, F.A.1    Gerbern, J.2    Krajewski, K.M.3
  • 22
    • 0027381482 scopus 로고
    • Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent
    • Telenius H, Kremer HP, Theilmann J, et al: Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 1993;2:1535-1540.
    • (1993) Hum Mol Genet , vol.2 , pp. 1535-1540
    • Telenius, H.1    Kremer, H.P.2    Theilmann, J.3
  • 23
    • 33846348445 scopus 로고    scopus 로고
    • EEG characteristic in juvenile Huntington's disease: A case report and review of the literature
    • Landau ME, Cannard KR: EEG characteristic in juvenile Huntington's disease: A case report and review of the literature. Epileptic Disord 2003;53:1-4.
    • (2003) Epileptic Disord , vol.53 , pp. 1-4
    • Landau, M.E.1    Cannard, K.R.2
  • 24
    • 11244324114 scopus 로고    scopus 로고
    • Early onset Huntington disease: A neuronal degeneration syndrome
    • Seneca S, Fagnart D, Keymolen K, et al: Early onset Huntington disease: A neuronal degeneration syndrome. Eur J Pediatr 2004;163: 717-721.
    • (2004) Eur J Pediatr , vol.163 , pp. 717-721
    • Seneca, S.1    Fagnart, D.2    Keymolen, K.3
  • 26
    • 0031722889 scopus 로고    scopus 로고
    • Severe circumscribed cortical atrophy in Huntington's disease
    • Garrett WT, Brashear HR, Cail WS, et al: Severe circumscribed cortical atrophy in Huntington's disease. Neurology 1998;51:638-639.
    • (1998) Neurology , vol.51 , pp. 638-639
    • Garrett, W.T.1    Brashear, H.R.2    Cail, W.S.3
  • 27
    • 0033771298 scopus 로고    scopus 로고
    • Huntington disease in children: Genotype-phenotype correlation
    • Rasmussen A, Macias R, Yescas P, et al: Huntington disease in children: Genotype-phenotype correlation. Neurropediatrics 2000;31: 190-194.
    • (2000) Neurropediatrics , vol.31 , pp. 190-194
    • Rasmussen, A.1    Macias, R.2    Yescas, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.