CAJ | 학술논문

目的研究Huntington舞蹈病的组织病理改变特点，观察泛素阳性营养不良性神经突起和神经细胞核内包涵体在大脑不同部位的分布规律，探讨痴呆和精神异常的病理基础。方法先症者为一49岁的男性病人，表现为进行性痴呆、舞蹈和精神异常，于病后17年死亡。家族中连续5代人中15例出现类似临床表现。先症者死亡后进行头部解剖和组织学检查，对大脑皮层和基底节不同区域进行tau蛋白和泛素免疫组织化学染色，分析不同区域的病理改变规律。结果脑病理改变特点为新纹状体显著萎缩，神经细胞脱失伴胶质细胞增生。泛素阳性的营养不良性神经突起和神经细胞核内包涵体主要出现在大脑皮层的Ⅲ～Ⅴ层，神经细胞核内泛素阳性包涵体在大脑额叶前区皮层达22%，依次为顶叶7%、枕叶3%、颞叶1%和扣带回1%。相应细胞核出现变性改变，包涵体不含有tau蛋白。泛素阳性营养不良性神经突起在大脑额叶前区皮层最多，每低倍视野达5个以上，其次为顶叶、颞叶和扣带回的皮层，低倍视野在1～5个之间。海马和纹状体仅偶见营养不良性神经突起，没有神经细胞核内包涵体。结论大脑皮层出现泛素阳性神经细胞核内包涵体和营养不良神经突起在大脑不同区域的分布存在很大的差异，由于额极也存在明显的病理改变，所以此病的智能减退属于额叶皮层-皮层下性痴呆。额叶、颞叶和扣带回皮层出现神经细胞核内包涵体或营养不良性神经突起可能是精神异常的病理学基础。
목적 연구Huntington무도병적조직병리개변특점，관찰범소양성영양불량성신경돌기화신경세포핵내포함체재대뇌불동부위적분포규률，탐토치태화정신이상적병리기출。방법 선증자위일49세적남성병인，표현위진행성치태、무도화정신이상，우병후17년사망。가족중련속5대인중15례출현유사림상표현。선증자사망후진행두부해부화조직학검사，대대뇌피층화기저절불동구역진행tau단백화범소면역조직화학염색，분석불동구역적병리개변규률。결과 뇌병리개변특점위신문상체현저위축，신경세포탈실반효질세포증생。범소양성적영양불량성신경돌기화신경세포핵내포함체주요출현재대뇌피층적Ⅲ～Ⅴ층，신경세포핵내범소양성포함체재대뇌액협전구피층체22%，의차위정협7%、침협3%、섭협1%화구대회1%。상응세포핵출현변성개변，포함체불함유tau단백。범소양성영양불량성신경돌기재대뇌액협전구피층최다，매저배시야체5개이상，기차위정협、섭협화구대회적피층，저배시야재1～5개지간。해마화문상체부우견영양불량성신경돌기，몰유신경세포핵내포함체。결론 대뇌피층출현범소양성신경세포핵내포함체화영양불량신경돌기재대뇌불동구역적분포존재흔대적차이，유우액겁야존재명현적병리개변，소이차병적지능감퇴속우액협피층-피층하성치태。액협、섭협화구대회피층출현신경세포핵내포함체혹영양불량성신경돌기가능시정신이상적병이학기출。
Objective To examine the distribution of ubiquitin positivestructures in brain of Chorea Huntington and pathological basis of cognitive and psychiatric symptoms in a large Northern-Chinese kindred.Methods A proband patient experienced a chronic onset of chorea with dementia at the age of 30 years. A few years later the patient developed psychiatric symptoms. He died at the age of 47 years. In his family there were 15 members from 5 generations who showed gradual dementia，progressive motor disability and psychiatric disturbance. Postmortem histological examination and immunohistochemical staining with antibodies against ubiquitin and Tau were performed in proband case. The distribution of ubiquitin positive dystrophic neurites and neuronal intranuclear inclusions were investigated. Results Morphologically，it was characterized by marked atrophy of bilateral striatum with loss of neurons and mild proliferation of astrocytes. Immunohistochemical study confirmed frequent appearance of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites in layer Ⅲ-V of cerebral cortex. The neuronal intranuclear ubiquitin positive inclusions usually associated with nuclear degeneration were more frequently found in frontal (22%) and parietal cortex (7%)，less frequently in occipital (3%)，temporal (1%) and limbic system (1%)，but not found in hypocampus and striatum. Ubiquitin positive neurites distributed frequently in frontal cortex (over 5 per low field)，less frequently in temporal and parietal cortex as well as limbic system (1-5 per low field)，but occasionally in hypocampus and striatum. Conclusions Our study confirmed that the frequency of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites were varied markedly in different area of cerebral cortex. Owing to the marked neuropathological changes in frontal cortex，the cognitive symptoms should be considered as a frontal -subcortical dementia. The ubiquitin positive dystrophic neurites and neuronal intranuclear inclusions in frontal and temporal cortex as well as in limbic system might be a pathological basis in the development of psychiatric symptoms.