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한국인 뚜렛 장애에서의 약물 반응과 도파민 유전자 다형성간의 상관관계에 대한 예비 연구
김붕년(Boong-Nyun Kim),정선우(Sun-Woo Jung),황준원(Jun-Won Hwang),김재원(Jae-Won Kim),조수철(Soo-Churl Cho) 대한생물치료정신의학회 2006 생물치료정신의학 Vol.12 No.1
목적 : 본 연구는 도파민 관련 유전자와 뚜렛 장애아에서의 리스페리돈에 대한 반응간의 연관성을 알아보기 위한 목적으로 시행되었다. 방법 : 서울대 병원 소아청소년 정신과 틱장애 클라닉에서 5~16세의 뚜렛 장애아 21명을 대상으로 하여 리스페리돈을 투여하고 이에 대한 반응에 따라 반응군과 비반응군으로 나눠 이 두군에서의 DRD3(Ser9Gly), DRD4(exon 3VNTR), COMT(Val158Met)의 유전적 다형성을 분석하였다. 결과 : 12명(57%)의 환아가 리스페리돈에 대한 반응군의 기준을 만족하였으며 나머지는 비반응군으로 분류되었다. DRD4와 COMT의 다형성에 있어서 리스페리돈 반응군과 비 반응군간에 유의한 차이를 보이지 않았으나, DRD3의 A allele과 AA 유전자형의 빈도가 리스페리돈 반응군에서 비반응군에 비해 유의하게 높게 나타났다. 결론 : 이번 결과는 뚜렛 장애에서 DRD3 유전자와 리스페리돈에 대한 반응 사이에 유의한 연관성이 있을 가능성을 시사한다. Objectives : The purpose of this study is to explore association between the dopamine related gene and response to treatment with risperidone in children with Tourette disorder. Methods : Twenty-one children with Tourette disorder aged 5-16 were recruited from Tic Clinic at the Child and Adolescent Psychiatry Division of Seoul National University Hospital in Seoul, Korea. They were administered risperidone and grouped according to their responses. Response to risperidone was evaluated by psychiatrist using Yale Global Tic Severity Scale(YGTSS) and clinical observation. Polymorphism of three genetic markers including DRD3(Ser9Gly), DRD4(exon 3 VNTR), COMT(Val158Met) was analyzed in these risperidone compliant children with Tourette disorder. Association between genetic polymorphism and the response to risperidone was evaluated. Results : Twelve children(57%) showed response to risperidone and others were non-responders. Analysis showed no significant differences in DRD4 and COMT polymorphism between responders and nonresponders. However, frequencies of A allele and AA genotype of DRD3 were significantly higher in responders than in non-responders. Conclusion : Our results suggest that there may be a significant association between DRD3 gene and response to risperidone in Tourette disorder.
김수진(Su-Jin Kim),김붕년(Boong-Nyun Kim),조수철(Soo-Churl Cho),강제욱(Je-Wook Kang),김재원(Jae-Won Kim),신민섭(Min-Sup Shin),정광모(Kwang-Mo Cheong),김효원(Hyo-Won Kim) 대한소아청소년정신의학회 2009 소아청소년정신의학 Vol.20 No.3
Objectives:Autism is a well-known psychiatric disorder that is presumed to have a neural basis. To investigate the underlying neurofunctional abnormalities of autism, the authors performed single photon emission computed tomography (SPECT) on children with autism. Methods:Fifty-five children with untreated autism (47 boys and 8 girls, mean age=50.6±20.28 months) were selected from among the patients visiting the child and adolescent psychiatric clinic of Seoul National University Hospital. Psychiatrists had diagnosed the participants according to the DSM-IV criteria for autistic disorder and the Childhood Autism Rating Scale (CARS) criteria for a diagnosis of autism. All participants were examined using 99mTC-HMPAO Brain SPECT. Using statistical parametric mapping (SPM) analysis, we compared the participants’ SPECT images to standardized SPECT images of normal children, which had been retrospectively selected by the authors, on a voxel by voxel basis. Voxels with a p-value less than .001 were considered to be significantly different. Results:The autistic group showed significant hypoperfusion in the right medial frontal gyrus, right precentral gyrus, and left precuneus gyrus. In addition, they showed no significant hyperperfusion areas when compared to the control group. Conclusion:The findings of hypoperfusion in the medial-frontal lobe and precuneus are accord with hemodynamic abnormalities that have been already reported. Therefore, these findings are compatible with the recently suggested “theory of mind” hypothesis and the disturbances in attention shifting that have been observed in autistic children.