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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >An autopsied case of unclassifiable sporadic four-repeat tauopathy presenting with parkinsonism and speech disturbances
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An autopsied case of unclassifiable sporadic four-repeat tauopathy presenting with parkinsonism and speech disturbances

机译：不能分类的零星四重复性牛头皮病的尸检病例，表现为帕金森氏症和言语障碍

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A 48-year-old Japanese woman experienced slow-onset parkinsonism and speech disturbances. Neurological examinations revealed rigidity in the trunk and extremities, bradykinesia and postural instability, although cognitive impairments and psychiatric symptoms were not apparent in the early disease stage. Neuroimaging revealed progressive bilateral frontotemporal lobe atrophy with cerebral blood flow hypoperfusion. No apparent signs of lower motor neuron involvement were observed, such as fasciculation or electromyogram findings. She eventually reached the akinetic mutism state, and gastrostomy and tracheotomy were performed at 4years after onset. A clinical diagnosis of progressive supranuclear palsy was made prior to her death, which occurred 6years after onset. Post mortem examinations revealed that the brain weighed 1200g and showed atrophy of the frontotemporal lobe and brainstem. Severe neuron loss and gliosis were observed in the frontotemporal lobe. The superior and middle frontal gyri were the most severely affected and showed spongiform changes in the superficial layer. The globus pallidus, subthalamic nucleus, cerebellar dentate nucleus, substantia nigra and inferior olivary nucleus also showed neuronal loss with gliosis. Using hyperphosphorylated tau (AT-8) immunostaining, pretangle-like neurons, numerous short threads and glial tau pathology were extensively observed. Using Gallyas-Braak silver staining, thin and short threads were also extensively observed, but considerably fewer than those observed by AT-8 immunostaining. Neither astrocytic plaques nor tuft-shaped astrocytes were observed. Examination by immunoelectron microscopy showed straight fibrils approximately 15nm in diameter in the neuronal cytoplasmic inclusions in the cerebral cortex and in the fibrillary structures in the cerebral white matter. Western blot analysis of sarkosyl-insoluble tau revealed predominantly four-repeat tau and a banding pattern similar to that seen in progressive supranuclear palsy. No pathogenic mutations were found during the gene analysis of microtubule-associated protein tau. After completing our comprehensive investigation, we diagnosed this patient with unclassifiable four-repeat tauopathy.
机译：一名48岁的日本妇女经历了缓慢发作的帕金森氏病和语言障碍。神经科检查显示躯干和四肢僵硬，运动迟缓和姿势不稳，尽管在疾病早期阶段认知障碍和精神症状并不明显。神经影像学检查显示，进行性双侧额颞叶萎缩伴脑血流灌注不足。没有观察到运动神经元受累的明显迹象，例如束缚或肌电图发现。她最终达到了运动性默状态，发病后4年进行了胃造口术和气管切开术。在她死亡前进行了进行性核上性麻痹的临床诊断，该病发生于发病后6年。验尸显示，大脑重1200克，额颞叶和脑干萎缩。在额颞叶观察到严重的神经元丢失和神经胶质增生。额中上回和中回回受影响最严重，并且在表层显示出海绵状变化。苍白球，丘脑下核，小脑齿状核，黑质和下橄榄核也显示神经元丢失并伴神经胶质化。使用高磷酸化的tau（AT-8）免疫染色，缠结前样神经元，广泛观察到许多短线和胶质tau病理。使用Gallyas-Braak银染色，还可以广泛观察到细线和短线，但比通过AT-8免疫染色所观察到的要少得多。既没有观察到星形细胞斑块也没有观察到簇状星形胶质细胞。免疫电子显微镜检查显示，在大脑皮层的神经元胞质内含物和大脑白质的纤维状结构中，直原纤维的直径约为15nm。对sarkosyl不溶性tau蛋白的Western印迹分析显示，主要为四重复tau蛋白，其条带模式与进行性核上性麻痹相似。在微管相关蛋白tau的基因分析过程中未发现致病突变。完成全面调查后，我们诊断出该患者患有无法分类的四重复性牛磺酸病。

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