CAJ | 학술논문

目的：探讨CAG重复序列与亨廷顿病( HD)临床症状的关系,进一步评价CAG年龄产物( CAP)评分在临床中的实用性。方法收集2个中国汉族HD家系成员的临床资料,包括临床症状和体征、剑桥老年认知量表中文版( CAMCOG-C)、汉密尔顿抑郁量表,绘制遗传系谱图,对自愿者抽取外周静脉血行IT15基因检测,对CAG重复序列>35的成员计算CAP得分。结果两家系遗传系谱图符合常染色体显性遗传；两家系共6人进行基因检测,其中1人正常,5人HD基因异常扩增；按照HD诊断标准,5人中2人为临床症状期,3人为临床诊断前期,症状期患者具有典型HD三联征的临床特征,临床诊断前期的患者虽未达到临床发病诊断标准,但和正常人相比,存在轻微的运动、认知、行为、个性改变中的1种或多种表现。结论 HD在临床诊断发病前可能就有轻微的临床症状；CAG重复序列数越多提示发病越早,症状越重；CAP得分作为一个参数,结合了CAG重复序列数和年龄,对预测发病年龄、指导临床试验中受试者分组、更好地理解HD的自然病程具有重要意义。
목적：탐토CAG중복서렬여형정돈병( HD)림상증상적관계,진일보평개CAG년령산물( CAP)평분재림상중적실용성。방법수집2개중국한족HD가계성원적림상자료,포괄림상증상화체정、검교노년인지량표중문판( CAMCOG-C)、한밀이돈억욱량표,회제유전계보도,대자원자추취외주정맥혈행IT15기인검측,대CAG중복서렬>35적성원계산CAP득분。결과량가계유전계보도부합상염색체현성유전；량가계공6인진행기인검측,기중1인정상,5인HD기인이상확증；안조HD진단표준,5인중2인위림상증상기,3인위림상진단전기,증상기환자구유전형HD삼련정적림상특정,림상진단전기적환자수미체도림상발병진단표준,단화정상인상비,존재경미적운동、인지、행위、개성개변중적1충혹다충표현。결론 HD재림상진단발병전가능취유경미적림상증상；CAG중복서렬수월다제시발병월조,증상월중；CAP득분작위일개삼수,결합료CAG중복서렬수화년령,대예측발병년령、지도림상시험중수시자분조、경호지리해HD적자연병정구유중요의의。
Objective To investigate the relation between CAG expansion length and clinical symptoms in hunting-ton′s disease ( HD) ,and to evaluate the value of CAG age product ( CAP score) in the clinical practice. Methods Two Han Chinese HD family members’ clinical data, including clinical symptoms and signs, the Cambridge cog-nitive examination-Chinese version ( CAMCOG-C) and Hamilton depression rating scale were collected, and these two families pedigree trees were drawn. Volunteers peripheral venous blood was extracted to pursue IT15 genetic test. CAP scores among members whose CAG repeat number was more than 35 were calculated. Results The pedi-gree trees indicated that HD was autosomal dominant inheritance. Among 6 participants who had pursued genetic test,1 was normal and 5 were carring expanded allele; according to fomal clinical diagnosis criteria,2 participants were in manifest period and 3 were in pre-manifest period. Individuals in manifest period had clinical triad,and in-divudals in premanifest period,though hadn’ t been clinically diagnoseded, were characterized by subtle motor,cog-nitive,behavioural or personality changes. Conclusion HD prior to clinical diagnosis may have mild clinical symptoms;the more CAG repeats indicate earlier onset, the heavier the symptoms. CAP score as a parameter, combined with the CAG repeat number and the age, is of great significance for predicting the onset age, clinical tri-al subjects grouping, and give a better understanding of the natural history of HD.