IF 1.9 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1648985

Euripedes Gomes De Carvalho Neto, Matheus Ferreira Gomes, Marina De Oliveira, Maryuris Isabel Niño Guete, Iuri Pereira Santos, Mateus Damiani Monteiro, Fernando Gustavo Stelzer, Fernando Kowacs, Liselotte Menke Barea

引用次数: 0

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. 致命性家族性失眠症两家系的临床特征及遗传特征。

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1617027

Runcheng He, Yacen Hu, Lingyan Yao, Yun Tian, Yafang Zhou, Fang Yi, Lin Zhou, Hongwei Xu, Qiying Sun

{"title":"Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia.","authors":"Runcheng He, Yacen Hu, Lingyan Yao, Yun Tian, Yafang Zhou, Fang Yi, Lin Zhou, Hongwei Xu, Qiying Sun","doi":"10.1080/19336896.2019.1617027","DOIUrl":"https://doi.org/10.1080/19336896.2019.1617027","url":null,"abstract":"Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related literatures. Methods: Two FFI cases with family histories were recruited in our study. The main clinical features, genetic features and possible pathophysiologic mechanisms of these two FFI cases were analysed. Results: The foremost symptoms seemed to be sleep disturbances and psychosis. Progressive sympathetic symptoms, movement disturbances and memory loss were frequently observed as well. Electroencephalography (EEG) showed a minor slowing without periodic triphasic waves. Polysomnography (PSG) showed reduction in total sleep time and disturbance of sleep-related respiratory. Brain magnetic resonance imaging (MRI) did not reveal obvious abnormality. Genetic analysis disclosed the prion protein gene mutation at codon 178 (D178N), with methionine (Met) homozygosity at the polymorphic position 129 (Met129Met). Conclusions: The major clinical features of Chinese FFI are sleep dysfunction, psychiatric symptoms and sympathetic symptoms. Our patients have similar clinical characteristics as that of the typical FFI cases.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2019.1617027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37266638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry 一例V180I基因型克雅氏病表现为明显的面部模仿

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1651181

Y. Iwasaki, K. Mori, Masumi Ito, Y. Kawai

{"title":"A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry","authors":"Y. Iwasaki, K. Mori, Masumi Ito, Y. Kawai","doi":"10.1080/19336896.2019.1651181","DOIUrl":"https://doi.org/10.1080/19336896.2019.1651181","url":null,"abstract":"ABSTRACT Although there have been no reports of facial mimicry in patients with Creutzfeldt-Jakob disease (CJD), we encountered a patient with genetic CJD with prion protein gene codon 180 mutation (V180I gCJD) who apparently showed this interesting clinical finding. The patient was an 87-year-old Japanese woman, and the first observed CJD symptom was poor spontaneity. She gradually showed cognitive dysfunction and subsequently gait disturbance. A prion protein gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Facial mimicry was observed 7 months after disease onset and continued for approximately 9 months. Pathological laughing and startle reaction were also observed during approximately the same period, whereas myoclonus was observed at a later stage, 12 months after disease onset, and was very mild in degree. Electroencephalography studies showed a diffuse slow basic pattern without periodic sharp wave complexes. Diffusion-weighted magnetic resonance imaging showed extensive hyperintensity in the cerebral cortex, and there was also hyperintensity with edematous swelling in the same regions on T2-weighted and fluid-attenuated inversion recovery images. On the basis of the magnetic resonance imaging findings and the findings of previous case reports of V180I gCJD, we speculate that the characteristic extensive cerebrocortical involvement observed in V180I gCJD was implicated in the pathogenesis of the facial mimicry observed in this case.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2019.1651181","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44653426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. mm1型散发性克雅氏病伴韦尼克脑病尸检1例。

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 Epub Date: 2018-11-14 DOI: 10.1080/19336896.2018.1545525

Yasushi Iwasaki, Rina Hashimoto, Yufuko Saito, Ikuko Aiba, Akira Inukai, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida

{"title":"An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy.","authors":"Yasushi Iwasaki, Rina Hashimoto, Yufuko Saito, Ikuko Aiba, Akira Inukai, Akio Akagi, Maya Mimuro, Hiroaki Miyahara, Tetsuyuki Kitamoto, Mari Yoshida","doi":"10.1080/19336896.2018.1545525","DOIUrl":"https://doi.org/10.1080/19336896.2018.1545525","url":null,"abstract":"An 83-year-old Japanese man presented with gait disturbance followed by rapidly-progressive cognitive impairment. Magnetic resonance diffusion-weighted images showed extensive hyperintense regions in the cerebral cortex. Four weeks after symptom onset, myoclonus appeared, and the patient developed difficulty swallowing; intravenous peripheral continuous infusions without vitamin supplementation were administered during the last two months of the patient's life. The patient reached the akinetic mutism state and died 12 weeks after symptom onset due to sepsis. The brain weighed 940 g and showed general cerebral atrophy. Extensive spongiform change were observed in the cerebral cortex, striatum, thalamus, and cerebellar cortex, but gliosis was generally mild. Numerous newly-developed hemorrhage foci were observed in the mammillary body, the areas adjacent to the third and fourth ventricles, and the periaqueduct of the midbrain; however, proliferation of capillaries and endothelium and collections of macrophages were relatively inconspicuous. These findings suggested comorbidity with the acute stage of Wernicke encephalopathy (WE). Immunostaining showed extensive diffuse synaptic-type prion protein deposition in the gray matter. According to the neuropathological, genetic, and molecular findings, the present case was finally diagnosed as MM1-type sporadic Creutzfeldt-Jakob disease (CJD) with WE. We should remain alert to the diagnosis of WE when CJD is suspected, and it is necessary to consider the complications of both diseases. This report emphasizes the importance of pathological investigations for the diagnosis of CJD, WE, and the coexistence of both.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2018.1545525","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36648305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Amyloid properties of the yeast cell wall protein Toh1 and its interaction with prion proteins Rnq1 and Sup35. 酵母细胞壁蛋白Toh1的淀粉样蛋白特性及其与朊病毒蛋白Rnq1和Sup35的相互作用。

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 Epub Date: 2018-12-27 DOI: 10.1080/19336896.2018.1558763

A V Sergeeva, J V Sopova, T A Belashova, V A Siniukova, A V Chirinskaite, A P Galkin, S P Zadorsky

{"title":"Amyloid properties of the yeast cell wall protein Toh1 and its interaction with prion proteins Rnq1 and Sup35.","authors":"A V Sergeeva, J V Sopova, T A Belashova, V A Siniukova, A V Chirinskaite, A P Galkin, S P Zadorsky","doi":"10.1080/19336896.2018.1558763","DOIUrl":"https://doi.org/10.1080/19336896.2018.1558763","url":null,"abstract":"Amyloids are non-branching fibrils that are composed of stacked monomers stabilized by intermolecular β-sheets. Some amyloids are associated with incurable diseases, whereas others, functional amyloids, regulate different vital processes. The prevalence and significance of functional amyloids in wildlife are still poorly understood. In recent years, by applying new approach of large-scale proteome screening, a number of novel candidate amyloids were identified in the yeast Saccharomyces cerevisiae, many of which are localized in the yeast cell wall. In this work, we showed that one of these proteins, Toh1, possess amyloid properties. The Toh1-YFP hybrid protein forms detergent-resistant aggregates in the yeast cells while being expressed under its own PTOH1 or inducible PCUP1 promoter. Using bacterial system for generation of extracellular amyloid aggregates C-DAG, we demonstrated that the N-terminal Toh1 fragment, containing amyloidogenic regions predicted in silico, binds Congo Red dye, manifests 'apple-green' birefringence when examined between crossed polarizers, and forms amyloid-like fibrillar aggregates visualized by TEM. We have established that the Toh1(20-365)-YFP hybrid protein fluorescent aggregates are co-localized with a high frequency with Rnq1C-CFP and Sup35NM-CFP aggregates in the yeast cells containing [PIN+] and [PSI+] prions, and physical interaction of these aggregated proteins was confirmed by FRET. This is one of a few known cases of physical interaction of non-Q/N-rich amyloid-like protein and Q/N-rich amyloids, suggesting that interaction of different amyloid proteins may be determined not only by similarity of their primary structures but also by similarity of their secondary structures and of conformational folds.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2018.1558763","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36791789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 15

Michael Ter-Avanesyan (1949-2018) - Advent of the scientist. Michael Ter-Avanesyan(1949-2018)——科学家的降临。

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 Epub Date: 2019-01-06 DOI: 10.1080/19336896.2018.1563427

Dmitry A Gordenin, Ludmila N Mironova

引用次数: 1

The insomnia phenotype in genetic Creutzfeldt-Jakob disease based on the E200K mutation. 基于E200K突变的遗传性克雅氏病失眠表型研究

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1590938

Eva Feketeova, Dominika Jarcuskova, Alzbeta Janakova, Marianna Vitkova, Jozef Dragasek, Zuzana Gdovinova

引用次数: 1

Spatial heterogeneity of prion gene polymorphisms in an area recently infected by chronic wasting disease. 慢性消耗性疾病新近感染地区朊病毒基因多态性的空间异质性

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1583042

William L Miller, W David Walter

引用次数: 16

Combining autophagy stimulators and cellulose ethers for therapy against prion disease 结合自噬刺激剂和纤维素醚治疗朊病毒病

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1670928

Basant A. Abdulrahman, Waqas Tahir, K. Doh-ura, S. Gilch, H. Schatzl

{"title":"Combining autophagy stimulators and cellulose ethers for therapy against prion disease","authors":"Basant A. Abdulrahman, Waqas Tahir, K. Doh-ura, S. Gilch, H. Schatzl","doi":"10.1080/19336896.2019.1670928","DOIUrl":"https://doi.org/10.1080/19336896.2019.1670928","url":null,"abstract":"ABSTRACT Prion diseases are fatal transmissible neurodegenerative disorders that affect animals and humans. Prions are proteinaceous infectious particles consisting of a misfolded isoform of the cellular prion protein PrPC, termed PrPSc. PrPSc accumulates in infected neurons due to partial resistance to proteolytic digestion. Using compounds that interfere with the production of PrPSc or enhance its degradation cure prion infection in vitro, but most drugs failed when used to treat prion-infected rodents. In order to synergize the effect of anti-prion drugs, we combined drugs interfering with the generation of PrPSc with compounds inducing PrPSc degradation. Here, we tested autophagy stimulators (rapamycin or AR12) and cellulose ether compounds (TC-5RW or 60SH-50) either as single or combination treatment of mice infected with RML prions. Single drug treatments significantly extended the survival compared to the untreated group. As anticipated, also all the combination therapy groups showed extended survival compared to the untreated group, but no combination treatment showed superior effects to 60SH-50 or TC-5RW treatment alone. Unexpectedly, we later found that combining autophagy stimulator and cellulose ether treatment in cultured neuronal cells mitigated the pro-autophagic activity of AR12 and rapamycin, which can in part explain the in vivo results. Overall, we show that it is critical to exclude antagonizing drug effects when attempting combination therapy. In addition, we identified AR-12 as a pro-autophagic drug that significantly extends survival of prion-infected mice, has no adverse side effects on the animals used in this study, and can be useful in future studies.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2019.1670928","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42979573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 19

Axonal changes in experimental prion diseases recapitulate those following constriction of postganglionic branches of the superior cervical ganglion: a comparison 40 years later. 实验性朊病毒疾病的轴突变化概括了颈上神经节节后分支收缩后的变化:40年后的比较。

IF 2.3 3区生物学

Prion Pub Date : 2019-01-01 DOI: 10.1080/19336896.2019.1595315

Paweł P Liberski

{"title":"Axonal changes in experimental prion diseases recapitulate those following constriction of postganglionic branches of the superior cervical ganglion: a comparison 40 years later.","authors":"Paweł P Liberski","doi":"10.1080/19336896.2019.1595315","DOIUrl":"https://doi.org/10.1080/19336896.2019.1595315","url":null,"abstract":"The major neurological feature of prion diseases is a neuronal loss accomplished through either apoptosis or autophagy. In this review, I compared axonal alterations in prion diseases to those described 40 years earlier as a result of nerve ligation. I also demonstrated that autophagic vacuoles and autophagosomes are a major part of dystrophic neurites. Furthermore, I summarized the current status of the autophagy in prion diseases and hypothesize, that spongiform change may originate from the autophagic vacuoles. This conclusion should be supported by other methods, in particular laser confocal microscopy. We observed neuronal autophagic vacuoles in different stages of formation, and our interpretation of the 'maturity' of their formation may or may not equate to actual developmental stages. Initially, a part of the neuronal cytoplasm was sequestrated within double or multiple membranes (phagophores) and often exhibited increased electron-density. The intracytoplasmic membranes formed labyrinth-like structures that suggest a multiplication of those membranes. The autophagic vacuoles then expand and eventually, a vast area of the cytoplasm was transformed into a merging mass of autophagic vacuoles. Margaret R. Matthews published a long treatise in the Philosophical Transactions of the Royal Society of London in which she had described in great detail the ultrastructure of postganglionic branches of the superior cervical ganglion in the rat following ligation of them. The earliest changes observed by Matthews between 6 h to 2 days in the proximal stump were distensions of proximal axons. Analogously, in our models, an increased number of 'regular' (round) and 'irregular' MVB and some autophagic vacuoles were observed collectively, both processes were similar.","PeriodicalId":54585,"journal":{"name":"Prion","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2019.1595315","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37136132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

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