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Volumn 100, Issue 5, 1997, Pages 896-898

Large intergenerational variation in age of onset in two young patients with Huntington's disease presenting as dyskinesia

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DYSKINESIA; HUMAN; HUNTINGTON CHOREA; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

EID: 0030777674     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.100.5.896     Document Type: Article
Times cited : (1)

References (21)
  • 1
    • 0007898952 scopus 로고
    • Huntington's chorea
    • Baraitser M, ed. Oxford, England: Oxford Medical Publications
    • Baraitser M. Huntington's chorea. In: Baraitser M, ed. The Genetics of Neurological Disorders. Oxford, England: Oxford Medical Publications; 1990:308-323
    • (1990) The Genetics of Neurological Disorders , pp. 308-323
    • Baraitser, M.1
  • 2
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983
    • (1993) Cell. , vol.72 , pp. 971-983
  • 3
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington's disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein DC, Leggo J, Coles, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington's 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
    • Rubinsztein, D.C.1    Leggo, J.2    Coles3
  • 4
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet. 1993;4:398-403
    • (1993) Nature Genet. , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 5
    • 0029130324 scopus 로고
    • Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington's disease
    • Ranen NG, Stine OC, Abbott M et al. Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington's disease. Am J Hum Genet. 1995;57:593-602
    • (1995) Am J Hum Genet. , vol.57 , pp. 593-602
    • Ranen, N.G.1    Stine, O.C.2    Abbott, M.3
  • 6
    • 0028234420 scopus 로고
    • Guidelines for the molecular genetics predictive test in Huntington's disease
    • International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet. 1994;31:555-559
    • (1994) J Med Genet. , vol.31 , pp. 555-559
  • 7
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease chromosomes
    • Warner JP, Barron LH, Brock DJ. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded in Huntington's disease chromosomes. Molec Cell Probes. 1993;7:235-239
    • (1993) Molec Cell Probes. , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.3
  • 8
    • 0027425189 scopus 로고
    • Huntington's disease in Grampian region: Correlation of the CAG repeat number and the age of onset of the disease
    • Simpson SA, Davidson MJ, Barron LH. Huntington's disease in Grampian region: correlation of the CAG repeat number and the age of onset of the disease. J Med Genet. 1993;30:1014-1017
    • (1993) J Med Genet. , vol.30 , pp. 1014-1017
    • Simpson, S.A.1    Davidson, M.J.2    Barron, L.H.3
  • 9
    • 0028815287 scopus 로고
    • Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease
    • Lucotte G, Turpin JC, Riess O et al. Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease. Hum Genet. 1995;95:231-232
    • (1995) Hum Genet. , vol.95 , pp. 231-232
    • Lucotte, G.1    Turpin, J.C.2    Riess, O.3
  • 10
    • 0027381482 scopus 로고
    • Molecular analysis of juvenile Huntington's disease: The major influence on (CAG)n repeat length is the sex of the affected parent
    • Telenius H, Kremer HPH, Theilmann J et al. Molecular analysis of juvenile Huntington's 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.H.2    Theilmann, J.3
  • 12
    • 0021045514 scopus 로고
    • Huntington's disease in monozygotic twins reared apart
    • Sudarsky L, Myers RH, Walshe TM. Huntington's disease in monozygotic twins reared apart. J Med Genet. 1983;20:408-411
    • (1983) J Med Genet. , vol.20 , pp. 408-411
    • Sudarsky, L.1    Myers, R.H.2    Walshe, T.M.3
  • 14
    • 0023715807 scopus 로고
    • Anticipation in Huntington's disease is inherited through the male line but may originate in the female
    • Ridley RM, Frith CD, Crow TJ, Conneally PM. Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J Med Genet. 1988;25:589-595
    • (1988) J Med Genet. , vol.25 , pp. 589-595
    • Ridley, R.M.1    Frith, C.D.2    Crow, T.J.3    Conneally, P.M.4
  • 15
    • 0025369230 scopus 로고
    • Proposed genetic basis of Huntington's disease
    • Laird CD. Proposed genetic basis of Huntington's disease. Trends Genet. 1990;6:242-247
    • (1990) Trends Genet. , vol.6 , pp. 242-247
    • Laird, C.D.1
  • 16
    • 0020508394 scopus 로고
    • Two models for a maternal factor in the inheritance of Huntington's disease
    • Boehnke M, Conneally PM, Lange K. Two models for a maternal factor in the inheritance of Huntington's disease. Am J Hum Genet. 1983;35: 845-860
    • (1983) Am J Hum Genet. , vol.35 , pp. 845-860
    • Boehnke, M.1    Conneally, P.M.2    Lange, K.3
  • 18
    • 1642430204 scopus 로고
    • Spinocerebellar degenerations and some related condotions
    • Edinburgh, Scotland; London, England; Melbourne, Australia; and New York, NY: Churchill Livingstone
    • Brett EM. Spinocerebellar degenerations and some related condotions. In: Paediatric Neurology. 2nd ed. Edinburgh, Scotland; London, England; Melbourne, Australia; and New York, NY: Churchill Livingstone; 1991: 243-246
    • (1991) Paediatric Neurology. 2nd Ed. , pp. 243-246
    • Brett, E.M.1
  • 19
    • 0027443824 scopus 로고
    • Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea
    • MacMillan JC, Morrison PJ, Nevin NC et al. Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet. 1993;30: 1012-1013
    • (1993) J Med Genet. , vol.30 , pp. 1012-1013
    • MacMillan, J.C.1    Morrison, P.J.2    Nevin, N.C.3
  • 20
    • 0028795383 scopus 로고
    • Tourettism associated with Huntington's disesase
    • Jankovic J, Ashikawa T. Tourettism associated with Huntington's disesase. Mov Disord. 1995;10:103-105
    • (1995) Mov Disord. , vol.10 , pp. 103-105
    • Jankovic, J.1    Ashikawa, T.2
  • 21
    • 0028077467 scopus 로고
    • Cortical myoclonus in Huntington's disease
    • Thompson PD, Bhatia KP, Brown P, et al. Cortical myoclonus in Huntington's disease. Mov Disord. 1994;9:633-641
    • (1994) Mov Disord. , vol.9 , pp. 633-641
    • Thompson, P.D.1    Bhatia, K.P.2    Brown, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.