机构：[1]Department of Pathology, Brain Research Institute, University of Niigata, Niigata,[2]Pathological Neuroscience (Resource Branch for Brain Disease Research CBBR), Brain Research Institute, University of Niigata, Niigata,[3]Department of Neurology, Tachikawa General Hospital, Nagaoka[4]Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai, Japan[5]Department of Neuropathology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang Chun Street, Beijing 100053, PR China.病理科首都医科大学宣武医院
We report a case of human prion disease of 29 months duration in a 74-year-old Japanese man. The disease started with progressive sleeplessness and dementia. MRI showed gradually progressive cerebral atrophy. Neuronal loss, spongiform change and gliosis were evident in the thalamus and cerebral cortex, as well as in the striatum and amygdaloid nucleus. In the cerebellar cortex, mild-to-moderate depletion of Pukinje cells and spongiform change were observed. Mild neuronal loss in the inferior olivary nucleus was also seen. Immunohistochemistry revealed widespread perivacuolar deposits of abnormal prion protein (PrPSc) in the cerebral cortex, thalamus, basal ganglia, and brainstem, and minimal plaque-like deposits of PrPSc in the cerebellar cortex. In the cerebellar plaque-like deposits, the presence of amyloid fibrils was confirmed ultrastructurally. The entire pathology appeared to lie halfway between those of CJD and fatal insomnia, and further demonstrated the relationship between spongiform degeneration and PrPSc deposits, especially in the diseased thalamus. By immunoblotting, the thalamus was shown to contain the lowest amount of PrPSC among the brain regions examined. The PrPSc of type 2, in which the ratio of the three glycoforms was compatible with that of sporadic fatal insomnia (MM2-thalamic variant) reported previously, was also demonstrated. Analysis of the prion protein gene (PRNP) showed no mutation, and homozygosity for methionine at codon 129. In conclusion, we considered that this patient had been suffering from sporadic, pathologically atypical fatal insomnia.
语种：
外文
中科院(CAS)分区：
出版当年[2004]版：
无
最新[2023]版：
大类|4 区医学
小类|4 区临床神经病学4 区神经科学4 区病理学
第一作者：
第一作者机构：[1]Department of Pathology, Brain Research Institute, University of Niigata, Niigata,[5]Department of Neuropathology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang Chun Street, Beijing 100053, PR China.
通讯作者：
通讯机构：[*]Department of Pathology, Brain Research Institute, University of Niigata, 1-757 Asahimachi, Niigata 951-8585, Japan.
推荐引用方式(GB/T 7714)：
Yue-Shan Piao ,Akiyoshi Kakita ,Hiroyuki Watanabe ,et al.Sporadic fatal insomnia with spongiform degeneration in the thalamus and widespread PrPSc deposits in the brain[J].Neuropathology.2005,25(2):doi:10.1111/j.1440-1789.2005.00608.x.
APA：
Yue-Shan Piao,,Akiyoshi Kakita,,Hiroyuki Watanabe,,Tetsuyuki Kitamoto&Hitoshi Takahashi.(2005).Sporadic fatal insomnia with spongiform degeneration in the thalamus and widespread PrPSc deposits in the brain.Neuropathology,25,(2)
MLA：
Yue-Shan Piao,,et al."Sporadic fatal insomnia with spongiform degeneration in the thalamus and widespread PrPSc deposits in the brain".Neuropathology 25..2(2005)
