Fatal familial insomnia: Mitochondrial and protein synthesis machinery decline in the mediodorsal thalamus
This article is protected by copyright. All rights reserved. (Source: Brain Pathology)
Source: Brain Pathology - June 23, 2016 Category: Neurology Authors: Margalida A. Frau‐Méndez, Iván Fernández‐Vega, Belén Ansoleaga, Rosa Blanco, Margarita Carmona, Jose Antonio del Rio, Inga Zerr, Franc Llorens, Juan José Zarranz, Isidro Ferrer Tags: Research Article Source Type: research
Circadian disruption: New clinical perspective of disease pathology and basis for chronotherapeutic intervention.
Abstract
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. Addit...
Source: Chronobiology International - June 15, 2016 Category: Biology Authors: Smolensky MH, Hermida RC, Reinberg A, Sackett-Lundeen L, Portaluppi F Tags: Chronobiol Int Source Type: research
Epidemiological characteristics of human prion diseases
Abstract
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.
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Source: Infectious Diseases of Poverty - June 1, 2016 Category: Infectious Diseases Source Type: research
Sexual disinhibition and agrypnia excitata in fatal familial insomnia
Fatal familial insomnia (FFI) is a rare hereditary prion disease, characterized by severe insomnia, motor disorders, dysautonomia and dementia [1,2]. The pathogenic cause is a point mutation at codon 178 of the prion protein gene (PRNP) [2]. This mutation is also found in genetic Creutzfeldt-Jakob disease (gCJD), but the intragenic polymorphism at codon 129 drives the clinical expression, with FFI patients expressing methionine and gCJD patients expressing valine in the mutant allele [2]. The polymorphism at codon 129 on the non-mutated allele influences the clinical presentation [2,3]. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - May 24, 2016 Category: Neurology Authors: Leonardo Cruz de Souza, Antônio Lúcio Teixeira, Fábio Lopes Rocha, Michele Christine Landemberger, Vilma Regina Martins, Paulo Caramelli Tags: Letter to the Editor Source Type: research
Prions in dentistry: A need to be concerned and known.
Authors: Sushma B, Gugwad S, Pavaskar R, Malik SA
Abstract
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. Prions resist the ...
Source: Journal of Oral and Maxillofacial Pathology - May 21, 2016 Category: ENT & OMF Tags: J Oral Maxillofac Pathol Source Type: research
Losing sleep over mitochondria: A new player in the pathophysiology of Fatal Familial Insomnia
(Source: Brain Pathology)
Source: Brain Pathology - April 30, 2016 Category: Neurology Authors: Markus Glatzel, Diego Sepulveda‐Falla Tags: Miscellaneous Source Type: research
Definite Fatal Familial Insomnia (FFI) Disease with Voltage-Gated Potassium Channel (VGKC)-Complex Autoimmunity: A Rare Case of Molecular Mimicry or Incidental Finding? (P5.187)
Conclusions: To date, this is the first reported case of autopsy and genetically-confirmed FFI with a positive VGKC-complex autoantibody titer. Although low titers of VGKC-complex antibody may be an incidental finding, its coincidence in this case may have affected the phenotypic presentation of FFI. Global screening for paraneoplastic antibodies may provide important insight into understanding the complex pathophysiology, including the potential role of molecular mimicry, of prion diseases.Disclosure: Dr. Sanamandra has nothing to disclose. Dr. Youn has nothing to disclose. Dr. Maciel has nothing to disclose. Dr. Schrag ...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Sanamandra, S., Youn, T., Maciel, C., Schrag, M., Machado, D., Gilmore, E. Tags: Aging and Dementia: Atypical Dementia Source Type: research
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutationat codon 117 of the Prion Protein Gene (PrPA117V)
Prion Diseases or Transmissible Spongiform Encephalopathies (TSEs) constitute rare neurodegenerative diseases, the most common being Creutzfeldt–Jakob disease (CJD). Fifteen percent (15%) of the cases worldwide are considered to be of the familial type and the remainder (85%) present as a sporadic disorder (sCJD) [1]. The familial (or genetic) type includes: genetic CJD (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker syndrome (GSS) [2]. Here we present the clinical findings of an Argentinean family with GSS due to mutation at codon 117 of the prion protein gene (PrPA117V), the first in Arge...
Source: Journal of the Neurological Sciences - February 26, 2016 Category: Neurology Authors: Michel Saenz-Farret, Carolina Candelaria Ramirez-Gomez, Natalia Araoz-Olivos, Heidi Carrillo-Canedo, Victoria Aldinio, Veronica Gisela Montilla-Uzcategui, Marcelo Kauffman, Federico Micheli Source Type: research
Gerstmann-Sträussler-Scheinker syndrome in an Argentinean family due to mutation at codon 117 of the Prion Protein Gene (PrPA117V)
Prion Diseases or Transmissible Spongiform Encephalopathies (TSEs) constitute rare neurodegenerative diseases, the most common being Creutzfeldt–Jakob disease (CJD). Fifteen percent (15%) of the cases worldwide are considered to be of the familial type and the remainder (85%) present as a sporadic disorder (sCJD) [1]. The familial (or genetic) type includes: genetic CJD (gCJD), fatal familial insomnia (FFI), and Gerstmann–Sträussler–Scheinker syndrome (GSS) [2]. Here we present the clinical findings of an Argentinean family with GSS due to mutation at codon 117 of the prion protein gene (PrPA117V), the first in Arge...
Source: Journal of the Neurological Sciences - February 26, 2016 Category: Neurology Authors: Michel Saenz-Farret, Carolina Candelaria Ramirez-Gomez, Natalia Araoz-Olivos, Heidi Carrillo-Canedo, Victoria Aldinio, Veronica Gisela Montilla-Uzcategui, Marcelo Kauffman, Federico Micheli Source Type: research
Prion Diseases
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-Stra¨ussler-Scheinker syndrome, and fatal familial insomnia), and acquired (kuru, variant Jakob-Creutzfeldt disease, and iatrogenic Jakob-Creutzfeldt disease) forms. This article presents updated information on the clinical features and diagnostic methods for human prion diseases. New ant...
Source: CONTINUUM - December 1, 2015 Category: Neurology Tags: Review Articles Source Type: research
Neurovegetative control is altered in transgenic mice expressing the prion protein mutation associated with fatal familial insomnia
Aim of this study was to test the hypothesis that transgenic (Tg) mice carrying the D178N/M129 prion protein mutation linked to fatal familial insomnia (FFI), beside developing severe sleep alterations [Bouybayoune et al, 2015, Plos Pathog, 11(4): e1004796], also develop autonomic dysfunction, a key phenotypic feature of the human disease. To this aim, i) nine Tg(FFI) mice, ii) eight C57BL/6J (wild type) mice, and iii) ten prion protein-deficient (knock out, KO) mice, kept at constant ambient temperature on a 12:12hour light (quiet/sleep):dark (activity/wake) cycle, were instrumented for chronic polygraphic recordings (EEG...
Source: Autonomic Neuroscience: Basic and Clinical - August 26, 2015 Category: Neuroscience Authors: M.A. Wu, E. Tobaldini, S. Bianchi, F. Del Gallo, I. Bouybayoune, S. Mantovani, I. Bertani, R. Chiesa, N. Montano, L. Imeri Tags: P13.1 Source Type: research
Metabolic patterns in prion diseases: an FDG PET voxel-based analysis
Conclusion
Patients with a prion disease exhibit a characteristic pattern of brain metabolism presentation in FDG PET imaging. Consequently, in patients with rapidly progressive cognitive impairment, the detection of these patterns in the FDG PET study could orient the diagnosis to a prion disease. (Source: European Journal of Nuclear Medicine and Molecular Imaging)
Source: European Journal of Nuclear Medicine and Molecular Imaging - June 4, 2015 Category: Nuclear Medicine Source Type: research
Metabolic patterns in prion diseases: an FDG PET voxel-based analysis.
CONCLUSION: Patients with a prion disease exhibit a characteristic pattern of brain metabolism presentation in FDG PET imaging. Consequently, in patients with rapidly progressive cognitive impairment, the detection of these patterns in the FDG PET study could orient the diagnosis to a prion disease.
PMID: 26041084 [PubMed - as supplied by publisher] (Source: Molecular Medicine)
Source: Molecular Medicine - June 4, 2015 Category: Molecular Biology Authors: Prieto E, Domínguez-Prado I, Riverol M, Ortega-Cubero S, Ribelles MJ, Luquin MR, de Castro P, Arbizu J Tags: Eur J Nucl Med Mol Imaging Source Type: research
Cardiovascular autonomic dysfunctions and sleep disorders
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 dysfunction. 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 ap...
Source: Sleep Medicine Reviews - June 3, 2015 Category: Sleep Medicine Authors: Giovanna Calandra-Buonaura, Federica Provini, Pietro Guaraldi, Giuseppe Plazzi, Pietro Cortelli Tags: Clinical Review Source Type: research
Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study
Conclusions Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied. (Source: Neurologia)
Source: Neurologia - March 8, 2015 Category: Neurology Source Type: research
