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Volumn 4, Issue 1, 2015, Pages 99-105

Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort

Author keywords

Age at onset; CAG repeat expansion; Huntington disease; late onset Huntington disease; Peru

Indexed keywords

ALLELE; ARTICLE; CAG REPEAT; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE TRANSMISSION; FAMILY HISTORY; GENE; GENOTYPE; HTT GENE; HUMAN; HUNTINGTON CHOREA; LATE ONSET HUNTINGTON DISEASE; MINI MENTAL STATE EXAMINATION; MONTREAL COGNITIVE ASSESSMENT; MOTOR DYSFUNCTION; OBSERVATIONAL STUDY; ONSET AGE; PATERNAL TRANSMISSION; PATERNALISM; PEDIGREE; PERUVIAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTH AMERICA; SYSTEMATIC REVIEW; UNIFIED HUNTINGTON DISEASE RATING SCALE; AGED; COHORT ANALYSIS; FEMALE; GENETICS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; PATHOPHYSIOLOGY; PERU; TRINUCLEOTIDE REPEAT; VERY ELDERLY;

EID: 84930190683     PISSN: 18796397     EISSN: 18796400     Source Type: Journal    
DOI: 10.3233/JHD-140119     Document Type: Article
Times cited : (25)

References (30)
  • 1
    • 34147147998 scopus 로고    scopus 로고
    • Huntington's Disease
    • Walker FO. Huntington's Disease. Semin Neurol. 2007;27:143-50.
    • (2007) Semin Neurol , vol.27 , pp. 143-150
    • Walker, F.O.1
  • 2
    • 0027480960 scopus 로고
    • Anovel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group
    • Anovel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell. 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 84864749266 scopus 로고    scopus 로고
    • The incidence and prevalence of Huntington's disease: A systematic review and meta-analysis
    • Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N. The incidence and prevalence of Huntington's disease: A systematic review and meta-analysis. Mov Disord. 2012;27:1083-91.
    • (2012) Mov Disord , vol.27 , pp. 1083-1091
    • Pringsheim, T.1    Wiltshire, K.2    Day, L.3    Dykeman, J.4    Steeves, T.5    Jette, N.6
  • 4
    • 84930190396 scopus 로고
    • Sobre la epidemiologia de la Corea de Huntington en el Peru
    • Cuba JM, Castro C, Benzaquen M. Sobre la epidemiologia de la Corea de Huntington en el Peru. Rev Neuropsiquiatría. 1983;46:114-20.
    • (1983) Rev Neuropsiquiatría , vol.46 , pp. 114-120
    • Cuba, J.M.1    Castro, C.2    Benzaquen, M.3
  • 5
    • 77349122826 scopus 로고    scopus 로고
    • CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches
    • Langbehn DR, Hayden M, Paulsen JS.CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches. Am JMed Genet B Neuropsychiatr Genet. 2010;153B:397-408.
    • (2010) Am JMed Genet B Neuropsychiatr Genet , vol.153 B , pp. 397-408
    • Langbehn, D.R.1    Hayden, M.2    Paulsen, J.S.3
  • 8
    • 84902343879 scopus 로고    scopus 로고
    • Late-onset Huntington's disease: Diagnostic and prognostic considerations
    • Koutsis G, Karadima G, Kladi A, Panas M. Late-onset Huntington's disease: Diagnostic and prognostic considerations. Parkinsonism Relat Disord. 2014;20(7):726-30.
    • (2014) Parkinsonism Relat Disord , vol.20 , Issue.7 , pp. 726-730
    • Koutsis, G.1    Karadima, G.2    Kladi, A.3    Panas, M.4
  • 9
    • 58149161719 scopus 로고    scopus 로고
    • Late onset Huntington disease: Clinical and genetic characteristics of 34 cases
    • Lipe H, Bird T. Late onset Huntington disease: Clinical and genetic characteristics of 34 cases. J Neurol Sci. 2009;276:159-62.
    • (2009) J Neurol Sci , vol.276 , pp. 159-162
    • Lipe, H.1    Bird, T.2
  • 12
    • 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 DJ. 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;7:235-39.
    • (1993) Mol Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.3
  • 17
    • 77649096734 scopus 로고    scopus 로고
    • The Montreal Cognitive Assessment as a screening tool for cognitive dysfunction in Huntington's disease
    • Videnovic A, Bernard B, Fan W, Jaglin J, Leurgans S, Shannon KM. The Montreal Cognitive Assessment as a screening tool for cognitive dysfunction in Huntington's disease. Mov Disord. 2010;25:401-04.
    • (2010) Mov Disord , vol.25 , pp. 401-404
    • Videnovic, A.1    Bernard, B.2    Fan, W.3    Jaglin, J.4    Leurgans, S.5    Shannon, K.M.6
  • 23
    • 0035128291 scopus 로고    scopus 로고
    • Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases
    • Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet. 2001;68:373-85.
    • (2001) Am J Hum Genet , vol.68 , pp. 373-385
    • Falush, D.1    Almqvist, E.W.2    Brinkmann, R.R.3    Iwasa, Y.4    Hayden, M.R.5
  • 25
    • 77958109197 scopus 로고    scopus 로고
    • Mechanisms of trinucleotide repeat instability during human development
    • McMurray CT.Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet. 2010;11:786-99.
    • (2010) Nat Rev Genet , vol.11 , pp. 786-799
    • McMurray, C.T.1
  • 26
    • 79960081472 scopus 로고    scopus 로고
    • Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease
    • Aziz NA, van Belzen MJ, Coops ID, Belfroid RD, Roos RA. Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease. Eur J Med Genet. 2011;54:e413-18.
    • (2011) Eur J Med Genet , vol.54 , pp. e413-e418
    • Aziz, N.A.1    Van Belzen, M.J.2    Coops, I.D.3    Belfroid, R.D.4    Roos, R.A.5
  • 28
    • 0029098272 scopus 로고
    • The epidemiology of Huntington's disease in Northern Ireland
    • Morrison PJ, Johnston WP, Nevin NC. The epidemiology of Huntington's disease in Northern Ireland. J Med Genet. 1995;32:524-30.
    • (1995) J Med Genet , vol.32 , pp. 524-530
    • Morrison, P.J.1    Johnston, W.P.2    Nevin, N.C.3
  • 29
    • 0023779388 scopus 로고
    • Huntington disease in Georgia: Age at onset
    • Adams P, Falek A, Arnold J. Huntington disease in Georgia: Age at onset. Am J Hum Genet. 1988;43:695-704.
    • (1988) Am J Hum Genet , vol.43 , pp. 695-704
    • Adams, P.1    Falek, A.2    Arnold, J.3
  • 30
    • 0034780024 scopus 로고    scopus 로고
    • High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
    • Almqvist E, Elterman D, MacLeod P, Hayden M. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet. 2001;60:198-205.
    • (2001) Clin Genet , vol.60 , pp. 198-205
    • Almqvist, E.1    Elterman, D.2    MacLeod, P.3    Hayden, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.