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Fatal familial insomnia

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https://www.readbyqxmd.com/read/28421536/lysosomal-quality-control-in-prion-diseases
#1
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
https://www.readbyqxmd.com/read/28387370/detection-of-prion-seeding-activity-in-the-olfactory-mucosa-of-patients-with-fatal-familial-insomnia
#2
Veronica Redaelli, Edoardo Bistaffa, Gianluigi Zanusso, Giulia Salzano, Luca Sacchetto, Martina Rossi, Chiara Maria Giulia De Luca, Michele Di Bari, Sara Maria Portaleone, Umberto Agrimi, Giuseppe Legname, Ignazio Roiter, Gianluigi Forloni, Fabrizio Tagliavini, Fabio Moda
Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrP(Sc) in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrP(Sc) detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrP(Sc) concentration of about 1 × 10(-14) g/ml. In contrast, PrP(Sc) was not detected in OM samples from healthy controls and patients affected by other neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and frontotemporal dementia...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#3
REVIEW
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28121634/fluorodeoxyglucose-positron-emission-tomography-fdg-pet-correlation-of-histopathology-and-mri-in-prion-disease
#4
Karin P Mente, James K O'Donnell, Stephen E Jones, Mark L Cohen, Nicolas R Thompson, Alberto Bizzi, Pierluigi Gambetti, Jiri G Safar, Brian S Appleby
Creutzfeldt-Jakob disease (CJD) and other prion diseases are rapidly progressive spongiform encephalopathies that are invariably fatal. Clinical features and magnetic resonance imaging, electroencephalogram, and cerebrospinal fluid abnormalities may suggest prion disease, but a definitive diagnosis can only be made by means of neuropathologic examination. Fluorodeoxyglucose positron emission tomography (FDG-PET) is not routinely used to evaluate patients with suspected prion disease. This study includes 11 cases of definite prion disease in which FDG-PET scans were obtained...
January 2017: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/28110369/neuroradiology-of-human-prion-diseases-diagnosis-and-differential-diagnosis
#5
REVIEW
Simona Gaudino, Emma Gangemi, Raffaella Colantonio, Annibale Botto, Emanuela Ruberto, Rosalinda Calandrelli, Matia Martucci, Maria Gabriella Vita, Carlo Masullo, Alfonso Cerase, Cesare Colosimo
Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD...
January 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28096244/experimental-models-of-inherited-prp-prion-diseases
#6
Joel C Watts, Stanley B Prusiner
The inherited prion protein (PrP) prion disorders, which include familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia, constitute ∼10%-15% of all PrP prion disease cases in humans. Attempts to generate animal models of these disorders using transgenic mice expressing mutant PrP have produced variable results. Although many lines of mice develop spontaneous signs of neurological illness with accompanying prion disease-specific neuropathological changes, others do not...
January 17, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/27943639/genetic-prion-disease-experience-of-a-rapidly-progressive-dementia-center-in-the-united-states-and-a-review-of-the-literature
#7
REVIEW
Leonel T Takada, Mee-Ohk Kim, Ross W Cleveland, Katherine Wong, Sven A Forner, Ignacio Illán Gala, Jamie C Fong, Michael D Geschwind
Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27809706/oxidative-stress-and-mitochondrial-dysfunction-linked-neurodegenerative-disorders
#8
REVIEW
Md Torequl Islam
Reactive species play an important role in physiological functions. Overproduction of reactive species, notably reactive oxygen (ROS) and nitrogen (RNS) species along with the failure of balance by the body's antioxidant enzyme systems results in destruction of cellular structures, lipids, proteins, and genetic materials such as DNA and RNA. Moreover, the effects of reactive species on mitochondria and their metabolic processes eventually cause a rise in ROS/RNS levels, leading to oxidation of mitochondrial proteins, lipids, and DNA...
January 2017: Neurological Research
https://www.readbyqxmd.com/read/27529062/prion-diseases-immunotargets-and-therapy
#9
REVIEW
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
https://www.readbyqxmd.com/read/27350609/towards-authentic-transgenic-mouse-models-of-heritable-prp-prion-diseases
#10
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
https://www.readbyqxmd.com/read/27350067/losing-sleep-over-mitochondria-a-new-player-in-the-pathophysiology-of-fatal-familial-insomnia
#11
Markus Glatzel, Diego Sepulveda-Falla
No abstract text is available yet for this article.
June 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27338255/fatal-familial-insomnia-mitochondrial-and-protein-synthesis-machinery-decline-in-the-mediodorsal-thalamus
#12
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...
January 2017: Brain Pathology
https://www.readbyqxmd.com/read/27308960/circadian-disruption-new-clinical-perspective-of-disease-pathology-and-basis-for-chronotherapeutic-intervention
#13
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
https://www.readbyqxmd.com/read/27251305/epidemiological-characteristics-of-human-prion-diseases
#14
REVIEW
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...
June 2, 2016: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/27194872/prions-in-dentistry-a-need-to-be-concerned-and-known
#15
REVIEW
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
https://www.readbyqxmd.com/read/27066585/atypical-parkinsonism-caused-by-pro105leu-mutation-of-prion-protein-a-broad-clinical-spectrum
#16
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
https://www.readbyqxmd.com/read/27056979/identification-of-new-molecular-alterations-in-fatal-familial-insomnia
#17
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 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. This 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
https://www.readbyqxmd.com/read/26864450/transgenic-mice-recapitulate-the-phenotypic-heterogeneity-of-genetic-prion-diseases-without-developing-prion-infectivity-role-of-intracellular-prp-retention-in-neurotoxicity
#18
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
https://www.readbyqxmd.com/read/26633779/prion-diseases
#19
REVIEW
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
https://www.readbyqxmd.com/read/26617725/clinical-histopathological-and-genetic-studies-in-a-case-of-fatal-familial-insomnia-with-review-of-the-literature
#20
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
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