Prion Disease
This article will review the pathophysiology, genetics, clinical presentations, and diagnostic challenges in patients with prion disease. Case discussions, images, and tables will be used to highlight important characteristics of prion disease and prion mimics. [...] Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals: Table of contents | Abstract | Full text (Source: Seminars in Neurology)
Source: Seminars in Neurology - September 17, 2019 Category: Neurology Authors: Baldwin, Kelly J. Correll, Cynthia M. Tags: Review Article Source Type: research
Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications.
Abstract
Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei. FFI is characterized by physiological sleep loss, which polygraphically appears to be a slow wave sleep loss, autonomic and motor hyperactivation with peculiar episodes of oneiric stupor. Alteration of autonomic functions is a great burden for FFI patients consisting in sympathetic overactivation, dysregulation of its physiological responses an...
Source: Autonomic Neuroscience - March 21, 2019 Category: Neuroscience Authors: Baldelli L, Provini F Tags: Auton Neurosci Source Type: research
c-Fos expression in the limbic thalamus following thermoregulatory and wake-sleep changes in the rat.
Abstract
A cellular degeneration of two thalamic nuclei belonging to the "limbic thalamus", i.e., the anteroventral (AV) and mediodorsal (MD) nuclei, has been shown in patients suffering from Fatal Familial Insomnia (FFI), a lethal prion disease characterized by autonomic activation and severe insomnia. To better assess the physiological role of these nuclei in autonomic and sleep regulation, c-Fos expression was measured in rats during a prolonged exposure to low ambient temperature (Ta, - 10 °C) and in the first hours of the subsequent recovery period at normal laboratory Ta (25 °C). Under this prot...
Source: Experimental Brain Research - March 17, 2019 Category: Neuroscience Authors: Luppi M, Cerri M, Di Cristoforo A, Hitrec T, Dentico D, Del Vecchio F, Martelli D, Perez E, Tupone D, Zamboni G, Amici R Tags: Exp Brain Res Source Type: research
T188K-Familial Creutzfeldt –Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD
(Source: Neuroscience Bulletin)
Source: Neuroscience Bulletin - March 4, 2019 Category: Neuroscience Source Type: research
Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications
Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei. FFI is characterized by physiological sleep loss, which polygraphically appears to be a slow wave sleep loss, autonomic and motor hyperactivation with peculiar episodes of oneiric stupor.Alteration of autonomic functions is a great burden for FFI patients consisting in sympathetic overactivation, dysregulation of its physiological responses and disruption of circadian r...
Source: Autonomic Neuroscience: Basic and Clinical - February 26, 2019 Category: Neuroscience Authors: L. Baldelli, F. Provini Tags: Review Source Type: research
18F-FDG PET Brain in a Patient With Fatal Familial Insomnia
A 57-year-old woman presented with a 3-month history of cognitive impairment, daytime somnolence, and violent sleep behavior. Her first- and second-degree relatives had similar symptoms prior to their premature deaths. Her MRI scan of the brain showed no significant abnormality. Electroencephalogram showed loss of slow-wave activity. Functional brain imaging performed with 18F-FDG PET was fused with her MRI scans. This demonstrated profound hypometabolism in bilateral thalami and the posterior cingulate cortex, which is pathognomonic for familial fatal insomnia. Hypometabolism in the temporal lobes suggests a long-standing...
Source: Clinical Nuclear Medicine - July 13, 2018 Category: Nuclear Medicine Tags: Interesting Images Source Type: research
Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia.
PMID: 29941716 [PubMed - in process] (Source: Chinese Medical Journal)
Source: Chinese Medical Journal - June 27, 2018 Category: General Medicine Authors: Wu LY, Zhan SQ, Huang ZY, Zhang B, Wang T, Liu CF, Lu H, Dong XP, Wu ZY, Zhang JW, Zhang JH, Zhao ZX, Han F, Huang Y, Lu J, Gauthier S, Jia JP, Wang YP Tags: Chin Med J (Engl) Source Type: research
Chapter 15 Fatal familial insomnia and sporadic fatal insomnia
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 153 Author(s): Laura Cracco, Brian S. Appleby, Pierluigi Gambetti Fatal familial insomnia (FFI) and sporadic fatal insomnia (sFI), or thalamic form of sporadic Creutzfeldt–Jakob disease MM2 (sCJDMM2T), are prion diseases originally named and characterized in 1992 and 1999, respectively. FFI is genetically determined and linked to a D178N mutation coupled with the M129 genotype in the prion protein gene (PRNP) at chromosome 20. sFI is a phenocopy of FFI and likely its sporadic form. Both diseases are primarily characterized by progressive sleep impa...
Source: Handbook of Clinical Neurology - June 8, 2018 Category: Neurology Source Type: research
Chapter 1 Human transmissible spongiform encephalopathies: historic view
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 153 Author(s): David M. Asher, Luisa Gregori The first of several pivotal moments leading to current understanding of human transmissible spongiform encephalopathies (TSEs) occurred in 1959 when veterinary pathologist W.J. Hadlow first recognized several similarities between scrapie—a slow infection of sheep caused by an unusual infectious agent—and kuru, a fatal exotic neurodegenerative disease affecting only people of a single language group in the remote mountainous interior of New Guinea, described two years earlier by D.C. Gajdusek and V. Zig...
Source: Handbook of Clinical Neurology - June 8, 2018 Category: Neurology Source Type: research
Typical patterns of metabolism in atypical neurodegenerative disorders on 18F-FDG brain PET: a review of the molecular imaging findings in these rare diseases
Conclusion: Alzheimer’s disease (AD), frontotemporal dementia (FTD), and dementia with Lewy bodies (DLB) account for the majority of the neurodegenerative disorders encountered in clinical practice, and their patterns of metabolism are thus more commonly seen. It is important, however, for the reader to also have a familiarity with the atypical neurodegenerative disorders such as CBD, PSP, MSA, and FFI/SFI which often display findings affecting non-cortical structures of the brain. Prognosis and patient management are aided by obtaining an accurate diagnosis in these patients. In this educational exhibit, we provide ...
Source: Journal of Nuclear Medicine - May 23, 2018 Category: Nuclear Medicine Authors: Schroeder, H., Shih, A., Lim, R. Tags: Educational Exhibits Source Type: research
A Case of Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies.
We report a rare case of fatal familial insomnia in a 58-year-old man who initially developed parkinsonism, secondary dementia, and visual hallucinations that were suspected to be due to dementia with Lewy bodies. We evaluated the function of the striatum via dopamine transporter SPECT using 123I-ioflupane and found marked presynaptic dopamine dysfunction in the bilateral striatum. This is the first reported case in which the initial symptom of fatal familial insomnia was parkinsonism and in which the dopamine transporter function was evaluated by DAT SPECT.
PMID: 29709939 [PubMed - as supplied by publisher] (Sourc...
Source: Internal Medicine - May 3, 2018 Category: Internal Medicine Tags: Intern Med Source Type: research
Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review
Rationale:
Fatal familial insomnia (FFI) is a human prion disease that is characterized by sleep-wake cycle deterioration, loss of slow-wave sleep, and motor overactivation over the daily 24-hour period.
Patient concerns:
Here, we report the case of a 57-year-old man who had an irregular sleep-wake cycle and exhibited frequent movements and vocalizations during sleep.
Diagnoses:
Video-polysomnography showed disrupted sleep structure, rapid alternation between sleep stages, and an absence of sleep spindles and slow-wave sleep. Moreover, body movements persisted throughout the entire sleep period, including rapid eye...
Source: Medicine - May 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Chapter 29 Prion disease
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 148 Author(s): 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, Gerstm...
Source: Handbook of Clinical Neurology - February 23, 2018 Category: Neurology Source Type: research
Prion Disease: A Review of Novel Transmission Methods and Efforts at Discovering Preventive and Therapeutic Modalities
Since the discovery of Prion Proteins (PrPs) in 1982, a new model for an “infectious agent” has been proposed that is substantially different from our understanding of disease transmission by other microorganisms. Prion proteins have been implicated in many different diseases. Various transmission modes have been discovered, including consumption of infected meat, blood transfusion, medical devices used in neurosurgery and corneal transplantation, environmental routes (such as soil), and airborne routes. Familial and sporadic instances of the disease have also been recognized, such as fatal familial insomnia. Prion dis...
Source: Infectious Diseases in Clinical Practice - January 1, 2018 Category: Infectious Diseases Tags: Review Articles Source Type: research
