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Fatal familial insomnia

Jennifer T Burchell, Peter K Panegyres
Transmissible spongiform encephathalopathies or prion diseases are a group of neurological disorders characterized by neuronal loss, spongiform degeneration, and activation of astrocytes or microglia. These diseases affect humans and animals with an extremely high prevalence in some species such as deer and elk in North America. Although rare in humans, they result in a devastatingly swift neurological progression with dementia and ataxia. Patients usually die within a year of diagnosis. Prion diseases are familial, sporadic, iatrogenic, or transmissible...
2016: ImmunoTargets and Therapy
Joel C Watts, Kurt Giles, Matthew E C Bourkas, Smita Patel, Abby Oehler, Marta Gavidia, Sumita Bhardwaj, Joanne Lee, Stanley B Prusiner
Attempts to model inherited human prion disorders such as familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker (GSS) disease, and fatal familial insomnia (FFI) using genetically modified mice have produced disappointing results. We recently demonstrated that transgenic (Tg) mice expressing wild-type bank vole prion protein (BVPrP) containing isoleucine at polymorphic codon 109 develop a spontaneous neurodegenerative disorder that exhibits many of the hallmarks of prion disease. To determine if mutations causing inherited human prion disease alter this phenotype, we generated Tg mice expressing BVPrP containing the D178N mutation, which causes FFI; the E200K mutation, which causes familial CJD; or an anchorless PrP mutation similar to mutations that cause GSS...
October 2016: Acta Neuropathologica
Markus Glatzel, Diego Sepulveda-Falla
No abstract text is available yet for this article.
June 28, 2016: Brain Pathology
Margalida A Frau-Méndez, Iván Fernández-Vega, Belén Ansoleaga, Rosa Blanco Tech, Margarita Carmona Tech, Jose Antonio Del Rio, Inga Zerr, Franc Llorens, Juan José Zarranz, Isidro Ferrer
The expression of subunits of mitochondrial respiratory complexes and components of the protein synthesis machinery from the nucleolus to the ribosome was analyzed in the mediodorsal thalamus in seven cases of fatal familial insomnia (FFI) compared with age-matched controls. NDUFB8 (complex I subunit), SDHB (complex II subunit), UQCRC2 (complex III subunit), COX2 (complex IV subunit), and ATP50 (complex V subunit) expression levels, as revealed by western blotting, were reduced in FFI. Voltage-dependent anion channel (VDAC) and ATP5H were also reduced due to the marked depopulation of neurons...
June 24, 2016: Brain Pathology
Michael H Smolensky, Ramon C Hermida, Alain Reinberg, Linda Sackett-Lundeen, Francesco Portaluppi
Biological processes are organized in time as innate rhythms defined by the period (τ), phase (peak [Φ] and trough time), amplitude (A, peak-trough difference) and mean level. The human time structure in its entirety is comprised of ultradian (τ < 20 h), circadian (20 h > τ < 28 h) and infradian (τ > 28 h) bioperiodicities. The circadian time structure (CTS) of human beings, which is more complicated than in lower animals, is orchestrated and staged by a brain central multioscillator system that includes a prominent pacemaker - the suprachiasmatic nuclei of the hypothalamus...
2016: Chronobiology International
Cao Chen, Xiao-Ping Dong
Human prion diseases are a group of transmissible, progressive, and invariably fatal neurodegenerative disorders, which include Kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia. Human prion diseases affect approximately 1-2 persons per million worldwide annually, occurring in sporadic, inherited, and acquired forms. These diseases have attracted both scientific and public attention not only because of their mysterious pathogen, but also due to their considerable threat to public health since the emergence of the variant CJD...
2016: Infectious Diseases of Poverty
B Sushma, Sachin Gugwad, Rajdeep Pavaskar, Shambhvi A Malik
Prion diseases were first discovered by Stanley B. Prusiner who defined prions as infectious, transmissible proteinaceous particles that lack nucleic acid and are composed exclusively of a modified isoform of the noninfectious cellular prion protein (PrPC). These are incurable neurodegenerative conditions affecting both animals and humans. They may be sporadic, infectious or inherited in origin. Human prion diseases include Creutzfeldt-Jakob desease (CJD), Gerstmann- Straussler-Scheinker disease, Kuru and Fatal familial insomnia...
January 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, Hiroyuki Ishiura, Shin-Ichi Tokushige, Yuji Takahashi, Naoko Saito Sato, Fumiko Kusunoki Nakamoto, Yaeko Ichikawa, Yu Nagashima, Yasuo Terao, Jun Shimizu, Masashi Hamada, Yoshikazu Uesaka, Genko Oyama, Go Ogawa, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
OBJECTIVE: To delineate molecular and clinical characteristics of 3 families with PRNP P105L mutation, a variant of Gerstmann-Sträussler-Scheinker syndrome whose main motor symptoms were parkinsonism and/or involuntary movements. METHODS: The causative mutation was first determined in the affected patients of family 1 using whole-exome sequencing, and then mutational analysis was extended to families 2 and 3. The clinical features of the patients of these 3 families were summarized...
February 2016: Neurology. Genetics
Franc Llorens, Katrin Thüne, Matthias Schmitz, Belén Ansoleaga, Margalida A Frau-Méndez, Maria Cramm, Waqas Tahir, Nadine Gotzmann, Sara Berjaoui, Margarita Carmona, Christopher J Silva, Ivan Fernandez-Vega, Juan José Zarranz, Inga Zerr, Isidro Ferrer
Fatal Familial Insomnia (FFI) is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders and spontaneous and evoked myoclonus, among other symptoms. The present study describes new neuropathological and biochemical observations in a series of eight patients with FFI. The mediodorsal and anterior nuclei of the thalamus have severe neuronal loss and marked astrocytic gliosis in every case, whereas the entorhinal cortex is variably affected...
April 7, 2016: Human Molecular Genetics
Roberto Chiesa, Elena Restelli, Liliana Comerio, Federico Del Gallo, Luca Imeri
Genetic prion diseases are degenerative brain disorders caused by mutations in the gene encoding the prion protein (PrP). Different PrP mutations cause different diseases, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI). The reason for this variability is not known. It has been suggested that prion strains with unique self-replicating and neurotoxic properties emerge spontaneously in individuals carrying PrP mutations, dictating the phenotypic expression of disease...
March 3, 2016: Prion
Michael D Geschwind
PURPOSE OF REVIEW: This article presents an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. RECENT FINDINGS: Prion diseases, a group of disorders caused by abnormally shaped proteins called prions, occur in sporadic (Jakob-Creutzfeldt disease), genetic (genetic Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia), and acquired (kuru, variant Jakob-Creutzfeldt disease, and iatrogenic Jakob-Creutzfeldt disease) forms...
December 2015: Continuum: Lifelong Learning in Neurology
Bin Peng, Shenqi Zhang, Hongjuan Dong, Zuneng Lu
To explore clinical, histopathological and genetic features of a case with fatal familial insomnia (FFI) and review the related literatures. A middle-aged woman who complained of "insomnia for 9 months and psychosis for 3 months" was suspicious of FFI. The clinical features of the patient were analyzed, and the dead patient was examined by autopsy and the brain tissues were obtained for histopathological studies, and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP)...
2015: International Journal of Clinical and Experimental Pathology
(no author information available yet)
No abstract text is available yet for this article.
July 2015: PLoS Pathogens
Giovanna Calandra-Buonaura, Federica Provini, Pietro Guaraldi, Giuseppe Plazzi, Pietro Cortelli
Animal and human studies have shown that disorders of the autonomic nervous system may influence sleep physiology. Conversely, sleep disorders may be associated with autonomic dysfunctions. The current review describes the clinical presentation, supposed pathogenetic mechanisms and the diagnostic and prognostic implications of impaired cardiovascular autonomic control in sleep disorders. This dysfunction may result from a common pathogenetic mechanism affecting both autonomic cardiovascular control and sleep, as in fatal familial insomnia, or it may be mainly caused by the sleep disorder, as observed in obstructive sleep apnoea...
April 2016: Sleep Medicine Reviews
Lin Sun, Xia Li, Xiang Lin, Feng Yan, Kathryn Chen, Shifu Xiao
Familial fatal insomnia (FFI) is fatal disorder characterized by damage to select thalamic nuclei, together with progressive insomnia and dysautonomia. In subjects carrying the D178N prion protein (PRNP) mutation, distinct phenotypes can be observed, depending on the methionine (Met) /valine (Val) codon 129 polymorphism. We report here a Chinese case of FFI with a D178N/Met129 genotype of the PRNP gene, who exhibited rapidly progressive dementia combined with behavioral disturbances and paroxysmal limb myoclonus...
2015: Prion
Jiapu Zhang, Feng Wang, Subhojyoti Chatterjee
It was reported that buffalo is a low susceptibility species resisting to transmissible spongiform encephalopathies (TSEs) (same as rabbits, horses, and dogs). TSEs, also called prion diseases, are invariably fatal and highly infectious neurodegenerative diseases that affect a wide variety of species (except for rabbits, dogs, horses, and buffalo), manifesting as scrapie in sheep and goats; bovine spongiform encephalopathy (BSE or "mad-cow" disease) in cattle; chronic wasting disease in deer and elk; and Creutzfeldt-Jakob diseases, Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, and Kulu in humans etc...
2016: Journal of Biomolecular Structure & Dynamics
Elena Prieto, Inés Domínguez-Prado, Mario Riverol, Sara Ortega-Cubero, María Jesús Ribelles, María Rosario Luquin, Purificación de Castro, Javier Arbizu
PURPOSE: Clinical diagnosis of human prion diseases can be challenging since symptoms are common to other disorders associated with rapidly progressive dementia. In this context, (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) might be a useful complementary tool. The aim of this study was to determine the metabolic pattern in human prion diseases, particularly sporadic Creutzfeldt-Jakob disease (sCJD), the new variant of Creutzfeldt-Jakob disease (vCJD) and fatal familial insomnia (FFI)...
September 2015: European Journal of Nuclear Medicine and Molecular Imaging
Gianluigi Forloni, Mauro Tettamanti, Ugo Lucca, Yasmin Albanese, Elena Quaglio, Roberto Chiesa, Alessandra Erbetta, Flavio Villani, Veronica Redaelli, Fabrizio Tagliavini, Vladimiro Artuso, Ignazio Roiter
The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset...
2015: Prion
Ihssane Bouybayoune, Susanna Mantovani, Federico Del Gallo, Ilaria Bertani, Elena Restelli, Liliana Comerio, Laura Tapella, Francesca Baracchi, Natalia Fernández-Borges, Michela Mangieri, Cinzia Bisighini, Galina V Beznoussenko, Alessandra Paladini, Claudia Balducci, Edoardo Micotti, Gianluigi Forloni, Joaquín Castilla, Fabio Fiordaliso, Fabrizio Tagliavini, Luca Imeri, Roberto Chiesa
Fatal familial insomnia (FFI) and a genetic form of Creutzfeldt-Jakob disease (CJD178) are clinically different prion disorders linked to the D178N prion protein (PrP) mutation. The disease phenotype is determined by the 129 M/V polymorphism on the mutant allele, which is thought to influence D178N PrP misfolding, leading to the formation of distinctive prion strains with specific neurotoxic properties. However, the mechanism by which misfolded variants of mutant PrP cause different diseases is not known. We generated transgenic (Tg) mice expressing the mouse PrP homolog of the FFI mutation...
April 2015: PLoS Pathogens
Qi Shi, Li-Na Chen, Bao-Yun Zhang, Kang Xiao, Wei Zhou, Cao Chen, Xiao-Mei Zhang, Chan Tian, Chen Gao, Jing Wang, Jun Han, Xiao-Ping Dong
Proteomics changes of brain tissues have been described in different neurodegenerative diseases including Alzheimer's disease and Parkinson's disease. However, the brain proteomics of human prion disease remains less understood. In the study, the proteomics patterns of cortex and cerebellum of brain tissues of sporadic Creutzfeldt-Jakob disease, fatal familial insomnia, and G114V genetic CJD were analyzed with isobaric tags for relative and absolute quantitation combined with multidimensional liquid chromatography and MS analysis, with the brains from three normal individuals as controls...
April 2015: Molecular & Cellular Proteomics: MCP
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