증례 753

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1 KISEP Case Reports J Korean Neuropsychiatr Assoc Vol 37, No 4 CAG 반복의확장을보인가족력이없는 Huntington 씨병 1 례 연규월 * 신수진 * 박성섭 ** A Case of Huntington s Disease without Family History Who Has Diagnosed with CAG Repeat Expansion Kyu Wol Yun, M.D.,* Su Jin Shin, M.D.,* Sung Sup Park, M.D.** 중심단어 국문초록 서 Department of Psychiatry, College of Medicine, Ewha Medical Research Center, Division of Neuroscience, Ewha Womans University, Seoul Department of Clinical Pathology, College of Medicine, Seoul National University, Seoul Corresponding author 론 752

2 증례 753

3 Fig. 1. PAGE analysis of CAG repeats in HD gene loucs. Results with CAG-CCG method. P, patient 45/18 repeatsc1 & c2, offsprings of patients, 20/18 & 18/17 repeats respectively Results with CAG only method of the same family reveals 43/18, 18/16, 18/16 repeats respectively 고 찰 754

4 참고문헌 1) Conneally PM(1984):Huntington s disease:genetics and epidemiology. Am J Genet 36: ) Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA(1983):A Polymorphic DNA marker genetically linked to Huntington s disese. Nature 306: ) The Huntington s Disease Collaborative Research Group(1993):A novel gene containing a triple nucleotide repeat that is expande and unstable on Huntington s disease chromosomes. Cell 72: ) Goldberg YP, Andrew SE, Clarke LA, Hayden Mr(1993):A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington s disease. Hum Molec Genet 2: ) Reiss O, Noerremoelle A, Soerensen SA(1993): Improved PCR conditions for the strech of(cag)n repeats causing Huntington s disease. Hum Molec Gent 2:637 6) Snell R, MacMillan JC, Cheadle JP(1993):Expansion of a specific trinucleotide repeat sequence in Huntington s disease. The molecular basis of phenotypic variation. Nat Genet 4: ) Valdes JM, Tagle DA, Elmer LW, Collins FS (1993):A simple nonreactive method for diagnosis of Huntington s disease. Hum Molec Genet 2: ) 김만호, 이광우, 박경석, 전범석, 이상복, 명호진 (1994) : 헌팅톤씨병이의심되는예에서시행한유전자분석에대한연구. 대한신경과학회지 12: ) 이석중, 이상복, 명호진 (1986):Huntington씨병 1 예. 대한신경과학회지 4: ) 이현섭, 백성욱, 김상욱 (1988):Huntington 씨병이 755

5 의심되는 2례. 대한신경과학회지 6: ) 임정근, 이상도, 서정규, 박영춘 (1989) : Huntington씨병 2가족예. 대한신경과학회지 7: ) 정재우, 이병철, 김진수 (1988) : Huntington씨병무도병 1예. 대한신경과학회지 6: ) Shoulson I, Goldbatt D(1981):Huntington s disese;effect of tetrabenazine and antipsychotic drugs on motoric features. Neurology 31:81 14) Kaplan HI, Sadock BJ(1995):Comprehensive Textbook of Psychiatry, 6th ed, Baltimore, William & Wilkins, pp ) Difiglia M(1997):Huntingtin s disease;from the gene to pathophysiology. Am J Psychiatry 154: ) Bozza A, Malagu S, Calzolari E(1995):Expansion of a(cag)n repeat region a sporadic case of HD. Acta Neurologica Scandinavica 92(2): ) Saito M, Ishikawa A, Iwanaga K(1996):A case report of lateonset Huntington disease without family history and caudate atrophy who has diagnosed clinicopathologically and genetically. No to Shinkei-Brain and Nerve 48(10): ) Leigh RJ, Newman SA, Folstein SE, Lasker AG, Jensen BA(1983):Abnormal ocular motor contol in Huntington s disese. Neurology 33: ) Martin JB, Gusella JF(1986):Huntington s disese: Pathogenesis and management. N Engl J Med 315: ) Cummings JL(1995):Behavioral and psychiatric symptoms associated with Huntington s disese. Advances in Neurology 65: ) Farrer LA(1986):Suicide and attempted suicide in Huntington s disease:implication for preclinical testing of persons at risk. Am J Med Genet 24:205 22) Caine ED, Shoulson(1983):Psychiatric syndromes in Huntington s disese. Am J Psychiatry 140: ) Wells CE(1979):Diagnosis of dementia. Psychosomatics 20: ) Morris M(1995):Dementia and cognitive changes in Huntington s disease. Advance in Neurology 65: ) Folstein SE(1989):Huntington s disease;a disorder of families. Baltimore, Johns Hopkins University Press 26) Spokes EGS(1981):The neurochemistry of Huntington s Chorea. Trends Neurosci 4: ) Koide R, Ikenchi T, Onodera O(1994):Unstable expasion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy(drpla). Nature Genetics 6: ) Kondo I(1990):Exclusion mapping of the hereditary dentatorubral-pallidoluysian atrophy gene from Huntington s disease locus. J Med Genet 27: ) Nagafuchi S, Yanagisawa H, Sato K(1994) : Dentatorubral-pallidoluysian atrophy expasion of an unstable CAG trinucleotide on chromosome 12p. Nature Genetics 6:

6 ABSTRACT J Korean Neuropsychiatr Assoc Vol 37, No 4, July, 1998 A Case of Huntington s Disease without Family History Who Has Diagnosed with CAG Repeat Expansion Kyu Wol Yun, M.D., Su Jin Shin, M.D., Sung Sup Park, M.D. Department of Psychiatry, College of Medicine, Ewha Medical Research Center, Division of Neuroscience, Ewha Womans University, Seoul We report a 48-year-old female with typical symptoms of Huntington s disease, including involuntary movement, cognitive dysfunction and psychiatric symptoms such as personality change, emotional instability, persecutory ideation and depression, but without family history. The diagnosis of HD was confirmed a repetitive DNA sequencecag amplification on HD locus by PCR and PAGE in this case. The DNA analysis showed that she had an allele with 43 repeat units, in the size range seen in HD chromosomes. So we reported this case with literature review. KEY WORDSHuntington s disease CAG repeat expansion PCR and PAGE. 757

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충북의대학술지 Chungbuk Med. J. Vol. 27. No. 1. 1~5 2017 Charcot-Marie-Tooth Disease 환자의마취 : 증례보고 신일동 1, 이진희 1, 박상희 1,2 * 책임저자 : 박상희, 충북청주시서원구충대로 1 번지, 충북대학교의과대학마취통증의학교실, 의학연구소 (28644), happycat19@hanmail.net