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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case
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Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case

机译：Niemann-Pick疾病C1型，主要累及额颞叶区域，皮层和脑干路易体：尸检病例

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Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder. Two disease-causing genes (NPC1 and NPC2) have been identified. NPC is characterized by neuronal and glial lipid storage and NFTs. Here, we report a man with juvenile-onset progressive neurological deficits, including pyramidal signs, ataxia, bulbar palsy, vertical supranuclear ophthalmoplegia, and psychiatric symptoms; death occurred at age 37 before definitive clinical diagnosis. Post mortem gross examination revealed a unique distribution of brain atrophy, predominantly in the frontal and temporal lobes. Microscopically, lipid storage in neurons and widely distributed NFTs were observed. Lipid storage cells appeared in systemic organs and filipin staining indicated intracellular cholesterol accumulation in hepatic macrophages. Electron microscopy revealed accumulation of lipids and characteristic oligolamellar inclusions. These findings suggested an NPC diagnosis. Neuronal loss and gliosis were frequently accompanied by NFTs and occurred in the frontal and temporal cortices, hippocampus, amygdala, basal forebrain, basal ganglia, thalamus, substantia nigra and brain stem nuclei. Lewy bodies (LBs) were observed in most, but not all, regions where NFTs were evident. In contrast, neuronal lipid storage occurred in more widespread areas, including the parietal and occipital cortices where neurodegeneration with either NFTs or LBs was minimal. Molecular genetic analysis demonstrated that the patient had compound heterozygous mutations in the cysteine-rich loop (A1017T and Y1088C) of the NPC1 gene. To our knowledge there has been no previous report of the A1017T mutation. The pathological features of this patient support the notion that NPC has an aspect of α-synucleinopathy, and long-term survivors of NPC may develop a frontotemporal-predominant distribution of brain atrophy.
机译：尼曼-匹克病C型（NPC）是常染色体隐性神经内脏脂质存储障碍。已经确定了两个致病基因（NPC1和NPC2）。 NPC的特征是神经元和神经胶质脂质存储和NFT。在这里，我们报告了一名患有少年发作性进行性神经功能缺损的男子，包括锥体束征，共济失调，延髓性麻痹，垂直核上眼肌麻痹和精神症状;确切的临床诊断之前，死亡发生在37岁。验尸后的检查显示，大脑萎缩的独特分布，主要分布在额叶和颞叶。显微镜下观察到神经元中脂质的存储和广泛分布的NFT。脂质储存细胞出现在全身器官中，而菲林染色表明细胞内胆固醇在肝巨噬细胞中蓄积。电子显微镜显示脂质的积聚和特征性低层夹杂物。这些发现暗示了鼻咽癌的诊断。神经元丢失和神经胶质增生经常伴有NFT，并发生在额叶和颞皮质，海马，杏仁核，基底前脑，基底神经节，丘脑，黑质和脑干核中。在大多数但并非全部NFT明显的区域中观察到路易体（LB）。相反，神经元脂质存储发生在更广泛的区域，包括顶叶和枕叶皮质，其中NFTs或LBs引起的神经变性最小。分子遗传学分析表明该患者在NPC1基因的富含半胱氨酸的环（A1017T和Y1088C）中具有复合杂合突变。据我们所知，以前没有关于A1017T突变的报道。该患者的病理学特征支持了NPC具有α突触核蛋白病的观点，而NPC的长期幸存者可能会形成脑萎缩的额颞叶主要分布。

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