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Fatal familial insomnia

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https://www.readbyqxmd.com/read/29676187/decrease-of-ryr2-in-the-prion-infected-cell-line-and-in-the-brains-of-the-scrapie-infected-mice-models-and-the-patients-of-human-prion-diseases
#1
Qi Shi, Jian-Le Li, Yue Ma, Li-Ping Gao, Kang Xiao, Jing Wang, Wei Zhou, Cao Chen, Yan-Jun Guo, Xiao-Ping Dong
The levels of ryanodine receptors (RyRs) are usually increased in the brains of human Alzheimer disease (AD) and AD animal models. To evaluate the underlying alteration of brain RyRs in prion disease, scrapie infected cell line SMB-S15 and its infected mice were tested. RyR2 specific Western blots revealed markedly decreased RyR2 levels both in the cells and in the brains of infected mice. Assays of the brain samples of other scrapie (agents 139A and ME7) infected mice collected at different time-points during incubation period showed time-dependent decreases of RyR2...
April 20, 2018: Prion
https://www.readbyqxmd.com/read/29569252/the-clinical-features-in-chinese-patients-with-prnp-d178n-mutation
#2
S Chen, S He, X-H Shi, X-J Shen, K-K Liang, J-H Zhao, B-C Yan, J-W Zhang
BACKGROUND AND PURPOSE: Fatal familial insomnia (FFI) is an autosomal dominant disease due to the D178N mutation of PRNP gene coupling with homozygous methionine (Met) at codon 129. It is generally considered that D178N mutation cases with 129 M/M homozygotes present as FFI, and 129 V/V as genetic CJD. However, the frequency of 129 Met alleles in Chinese population is much higher than that in Caucasians. This study aims to investigate the clinical features and genetic characteristics of Chinese D178N mutants in this genetic context...
March 22, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29478593/prion-disease
#3
Leonel T Takada, Mee-Ohk Kim, Stacy Metcalf, Ignacio Illán Gala, Michael D Geschwind
Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion protein gene (PRNP). Although the first PRNP mutations identified, and most since, are PRNP missense, octapeptide repeat insertions, deletion and nonsense mutations have now also been shown to cause gPrD. Based on clinicopathologic features of familial disease, gPrDs historically have been classified into three forms: familial Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29376088/an-in%C3%A2-vivo-11c-pk-pet-study-of-microglia-activation-in-fatal-familial-insomnia
#4
Leonardo Iaccarino, Luca Presotto, Valentino Bettinardi, Luigi Gianolli, Ignazio Roiter, Sabina Capellari, Piero Parchi, Pietro Cortelli, Daniela Perani
Objective: Postmortem studies reported significant microglia activation in association with neuronal apoptosis in Fatal Familial Insomnia (FFI), indicating a specific glial response, but negative evidence also exists. An in vivo study of local immune responses over FFI natural course may contribute to the understanding of the underlying pathogenesis. Methods: We included eight presymptomatic subjects (mean ± SD age:44.13 ± 3.83 years) carrying the pathogenic D178N-129met FFI mutation, one symptomatic patient (male, 45 yrs...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29357384/regional-and-subtype-dependent-mirna-signatures-in-sporadic-creutzfeldt-jakob-disease-are-accompanied-by-alterations-in-mirna-silencing-machinery-and-biogenesis
#5
Franc Llorens, Katrin Thüne, Eulàlia Martí, Eirini Kanata, Dimitra Dafou, Daniela Díaz-Lucena, Ana Vivancos, Orr Shomroni, Saima Zafar, Matthias Schmitz, Uwe Michel, Natalia Fernández-Borges, Olivier Andréoletti, José Antonio Del Río, Juana Díez, Andre Fischer, Stefan Bonn, Theodoros Sklaviadis, Juan Maria Torres, Isidre Ferrer, Inga Zerr
Increasing evidence indicates that microRNAs (miRNAs) are contributing factors to neurodegeneration. Alterations in miRNA signatures have been reported in several neurodegenerative dementias, but data in prion diseases are restricted to ex vivo and animal models. The present study identified significant miRNA expression pattern alterations in the frontal cortex and cerebellum of sporadic Creutzfeldt-Jakob disease (sCJD) patients. These changes display a highly regional and disease subtype-dependent regulation that correlates with brain pathology...
January 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29258312/genetic-and-rare-disease-of-the-cns-part-i-fatal-familial-insomnia-ffi
#6
EDITORIAL
Craig W Lindsley
No abstract text is available yet for this article.
December 20, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29245265/agrypnia-excitata-and-obstructive-apnea-in-a-patient-with-fatal-familial-insomnia-from-china-a-case-report
#7
Congcong Sun, Wen Xia, Ying Liu, Guoyong Jia, Cuilan Wang, Chuanzhu Yan, Yi Li
RATIONALE: Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population. Here, we describe a Han Chinese patient with FFI who exhibited agrypnia excitata and obstructive apnea. PATIENT CONCERNS: A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system dysfunction, cognitive deficit, brainstem symptoms, myoclonus and ataxia in order within 8 months...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29216791/the-associations-of-two-snps-in-mirna-146a-and-one-snp-in-zbtb38-rasa2-with-the-disease-susceptibility-and-the-clinical-features-of-the-chinese-patients-of-scjd-and-ffi
#8
Chen Gao, Qiang Shi, Jing Wei, Wei Zhou, Kang Xiao, Jing Wang, Qi Shi, Xiao-Ping Dong
Prion diseases are a group of fatal neurodegenerative disorders that affect humans and animals. Besides of the pathological agent, prion, there are some elements that can influence or determine susceptibility to prion infection and the clinical phenotype of the diseases, e.g., the polymorphism in PRNP gene. Another polymorphism in ZBTB38-RASA2 has been observed to be associated with the susceptibility of sporadic Creutzfeldt-Jacob disease (sCJD) in UK. MicroRNAs are endogenous small noncoding RNAs that control gene expression by targeting mRNAs and triggering either translation repression or RNA degradation...
January 2, 2018: Prion
https://www.readbyqxmd.com/read/29149024/the-role-of-the-mammalian-prion-protein-in-the-control-of-sleep
#9
REVIEW
Amber Roguski, Andrew C Gill
Sleep disruption is a prevalent clinical feature in many neurodegenerative disorders, including human prion diseases where it can be the defining dysfunction, as in the case of the "eponymous" fatal familial insomnia, or an early-stage symptom as in certain types of Creutzfeldt-Jakob disease. It is important to establish the role of the cellular prion protein (PrPC ), the key molecule involved in prion pathogenesis, within the sleep-wake system in order to understand fully the mechanisms underlying its contribution to both healthy circadian rhythmicity and sleep dysfunction during disease...
November 17, 2017: Pathogens
https://www.readbyqxmd.com/read/29142239/differential-overexpression-of-serpina3-in-human-prion-diseases
#10
S Vanni, F Moda, M Zattoni, E Bistaffa, E De Cecco, M Rossi, G Giaccone, F Tagliavini, S Haïk, J P Deslys, G Zanusso, J W Ironside, I Ferrer, G G Kovacs, G Legname
Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30)...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126445/ykl-40-in-the-brain-and-cerebrospinal-fluid-of-neurodegenerative-dementias
#11
Franc Llorens, Katrin Thüne, Waqas Tahir, Eirini Kanata, Daniela Diaz-Lucena, Konstantinos Xanthopoulos, Eleni Kovatsi, Catharina Pleschka, Paula Garcia-Esparcia, Matthias Schmitz, Duru Ozbay, Susana Correia, Ângela Correia, Ira Milosevic, Olivier Andréoletti, Natalia Fernández-Borges, Ina M Vorberg, Markus Glatzel, Theodoros Sklaviadis, Juan Maria Torres, Susanne Krasemann, Raquel Sánchez-Valle, Isidro Ferrer, Inga Zerr
BACKGROUND: YKL-40 (also known as Chitinase 3-like 1) is a glycoprotein produced by inflammatory, cancer and stem cells. Its physiological role is not completely understood but YKL-40 is elevated in the brain and cerebrospinal fluid (CSF) in several neurological and neurodegenerative diseases associated with inflammatory processes. Yet the precise characterization of YKL-40 in dementia cases is missing. METHODS: In the present study, we comparatively analysed YKL-40 levels in the brain and CSF samples from neurodegenerative dementias of different aetiologies characterized by the presence of cortical pathology and disease-specific neuroinflammatory signatures...
November 10, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29064456/reduced-abundance-and-subverted-functions-of-proteins-in-prion-like-diseases-gained-functions-fascinate-but-lost-functions-affect-aetiology
#12
REVIEW
W Ted Allison, Michèle G DuVal, Kim Nguyen-Phuoc, Patricia L A Leighton
Prions have served as pathfinders that reveal many aspects of proteostasis in neurons. The recent realization that several prominent neurodegenerative diseases spread via a prion-like mechanism illuminates new possibilities for diagnostics and therapeutics. Thus, key proteins in Alzheimer Disease and Amyotrophic lateral sclerosis (ALS), including amyloid-β precursor protein, Tau and superoxide dismutase 1 (SOD1), spread to adjacent cells in their misfolded aggregated forms and exhibit template-directed misfolding to induce further misfolding, disruptions to proteostasis and toxicity...
October 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28987186/prion-diseases
#13
REVIEW
James W Ironside, Diane L Ritchie, Mark W Head
The human prion diseases comprise Creutzfeldt-Jakob disease, variably protease-sensitive prionopathy, Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, and kuru. Each is a uniformly fatal rare neurodegenerative disease in which conformational changes in the prion protein are thought to be the central pathophysiologic event. The majority of cases of human prion diseases occur worldwide in the form of sporadic Creutzfeldt-Jakob disease and a minority of around 10-15% are associated with mutations of the prion protein gene, termed PRNP, in the forms of genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28878311/high-diagnostic-value-of-second-generation-csf-rt-quic-across-the-wide-spectrum-of-cjd-prions
#14
Alessia Franceschini, Simone Baiardi, Andrew G Hughson, Neil McKenzie, Fabio Moda, Marcello Rossi, Sabina Capellari, Alison Green, Giorgio Giaccone, Byron Caughey, Piero Parchi
An early and accurate in vivo diagnosis of rapidly progressive dementia remains challenging, despite its critical importance for the outcome of treatable forms, and the formulation of prognosis. Real-Time Quaking-Induced Conversion (RT-QuIC) is an in vitro assay that, for the first time, specifically discriminates patients with prion disease. Here, using cerebrospinal fluid (CSF) samples from 239 patients with definite or probable prion disease and 100 patients with a definite alternative diagnosis, we compared the performance of the first (PQ-CSF) and second generation (IQ-CSF) RT-QuIC assays, and investigated the diagnostic value of IQ-CSF across the broad spectrum of human prions...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28861778/purification-and-fibrillation-of-full-length-recombinant-prp
#15
Natallia Makarava, Regina Savtchenko, Ilia V Baskakov
Misfolding and aggregation of prion protein are related to several neurodegenerative diseases in humans such as Creutzfeldt-Jakob disease, fatal familial insomnia, and Gerstmann-Straussler-Scheinker disease. A growing number of applications in the prion field including assays for detection of PrP(Sc) and methods for production of PrP(Sc) de novo require recombinant prion protein (PrP) of high purity and quality. Here, we report an experimental procedure for expression and purification of full-length mammalian prion protein...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28851967/generation-of-a-new-infectious-recombinant-prion-a-model-to-understand-gerstmann-str%C3%A3-ussler-scheinker-syndrome
#16
Saioa R Elezgarai, Natalia Fernández-Borges, Hasier Eraña, Alejandro M Sevillano, Jorge M Charco, Chafik Harrathi, Paula Saá, David Gil, Qingzhong Kong, Jesús R Requena, Olivier Andréoletti, Joaquín Castilla
Human transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatal neurodegenerative disorders that include Kuru, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia. GSS is a genetically determined TSE caused by a range of mutations within the prion protein (PrP) gene. Several animal models, based on the expression of PrPs carrying mutations analogous to human heritable prion diseases, support that mutations might predispose PrP to spontaneously misfold...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28620158/clinical-features-and-sleep-analysis-of-chinese-patients-with-fatal-familial-insomnia
#17
Liyong Wu, Hui Lu, Xianling Wang, Jia Liu, Chaoyang Huang, Jing Ye, Cuijiang Li, Jun Lu, Yuping Wang, Jianping Jia, Shuqin Zhan
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28549449/fatal-familial-insomnia-with-abnormal-signals-on-routine-mri-a-case-report-and-literature-review
#18
REVIEW
Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu
BACKGROUND: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CASE PRESENTATION: The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration...
May 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28449898/fatal-familial-insomnia-a-video-polysomnographic-case-report
#19
Thomas Megelin, Benjamin Thomas, Xavier Ferrer, Imad Ghorayeb
No abstract text is available yet for this article.
May 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28421536/lysosomal-quality-control-in-prion-diseases
#20
REVIEW
Priyanka Majumder, Oishee Chakrabarti
Prion diseases are transmissible, familial or sporadic. The prion protein (PrP), a normal cell surface glycoprotein, is ubiquitously expressed throughout the body. While loss of function of PrP does not elicit apparent phenotypes, generation of misfolded forms of the protein or its aberrant metabolic isoforms has been implicated in a number of neurodegenerative disorders such as scrapie, kuru, Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Sträussler-Scheinker and bovine spongiform encephalopathy...
April 18, 2017: Molecular Neurobiology
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