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Journal articles on the topic 'Fatal Familial Insomnia (FFI)'

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Published: 4 June 2025

Last updated: 15 July 2025

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1

Madoń, Barbara, Eryk Mikos, Justyna Nowaczek, Martyna Wasyluk, and Natalia Wilczek. "Prion diseases: fatal familial insomnia." Journal of Education, Health and Sport 11, no. 9 (2021): 29–36. http://dx.doi.org/10.12775/jehs.2021.11.09.004.

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Introduction. Fatal familial insomnia (FFI) is one of the transmissible spongiform encephathalopathies characterized by neuronal loss, sleep impairment, subsequent non-specific disturbances of autonomic nervous system (e.g. tachycardia) and endocrine dysfunctions. It is fatal autosomal dominant prion disease, which is extremaly rare- FFI affects only about one person per milion annually. The aim of this study is to review the literature and systematize knowledge about fatal familial insomnia.Brief description of the state of knowledge. The causative agent of this disease is a misfolded version of the physiological prion protein called PrP(Sc) in the brain. Major vulnerable regions in FFI are mediodorsal and anterior ventral nuclei of the thalamus. Average survival time after the onset of symptoms is 18 months. Hence molecular mechanisms involved in pathogenesis are poorly understood, the disease is incureable yet. However, there are a number of therapeutic options currently under investigation, e.g. immunotherapy or doxycycline usage.Conclusions. Subsequent researches are essential to improve understending of fatal familial insomnia. The prime issue is to develop functioning therapeutic or preventive treatment. While some of presented terapeutic approches appers promising, all of them require profoud research.

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2

Churchward, T., C. Kao, A. D’Rozario, et al. "P023 Quantitative EEG analysis of polysomnography in a case of Fatal Familial Insomnia." SLEEP Advances 2, Supplement_1 (2021): A29. http://dx.doi.org/10.1093/sleepadvances/zpab014.071.

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Abstract Purpose To report on quantitative electroencephalograph (EEG) activity during polysomnography (PSG) in a rare case of confirmed Fatal Familial Insomnia (FFI). Methods Sleep/wake characteristics of a 32-year-old male patient were quantitatively analysed using central EEG recordings during two PSGs (FFI-1 and FFI-2) first, for investigation of insomnia and PLMS but with no suspicion of FFI and second, 120 days later with suspected but unconfirmed FFI at the time; 89 days prior to death. PSG metrics; absolute EEG power in specified frequency bands; EEG slowing ratio of slow-to-fast frequencies ((delta + theta)/ (alpha + sigma + beta)); and sleep spindle density were calculated. Results were compared with gender and age-matched insomnia and healthy controls (two of each). Results FFI-1 and FFI-2 PSGs revealed total time in bed of 413.5 and 392 minutes, total sleep times of 208.5 and 7.5 minute, including NREM 153.0 and 2.5 minutes, and REM 55.5 and 5.0 minutes, respectively. FFI-1 had approximately 1.5 times lower slow wave activity (SWA, 0.5–4.5Hz) during N3 than insomnia and controls. FFI-1 had 2 times and 1.8 times higher slowing ratio during REM than insomnia and controls, respectively. Spindle density (per minute of NREM sleep) for FFI-1 was 0.9, compared to pair-averages of 1.2 for insomnia disorder and 4.7 for healthy controls. Conclusions PSG in FFI revealed poor sleep efficiency that severely deteriorated with disease progression. Quantitative analysis of EEG revealed lower spindle density, lower SWA in N3, and higher slowing ratio in REM, when compared to insomnia patients and healthy sleepers.

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3

Madoń, Barbara, Eryk Mikos, Justyna Nowaczek, Martyna Wasyluk, and Natalia Wilczek. "Prion diseases: Fatal familial insomnia." Journal of Education, Health and Sport 11, no. 9 (2021): 29–36. https://doi.org/10.12775/JEHS.2021.11.09.004.

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<strong>Madoń</strong> <strong>Barbara, Mikos Eryk, Nowaczek Justyna, Wasyluk Martyna, Wilczek Natalia</strong><strong>. </strong><strong>Prion diseases: Fatal familial insomnia</strong><strong>. Journal of Education, Health</strong> <strong>and Sport. 2021;11(</strong><strong>9</strong><strong>):</strong><strong>29</strong><strong>-</strong><strong>36</strong><strong>. eISSN 2391-8306. DOI </strong><strong>http://dx.doi.org/10.12775/JEHS.2021.11.0</strong><strong>9</strong><strong>.0</strong><strong>0</strong><strong>4</strong> <strong>https://apcz.umk.pl/czasopisma/index.php/JEHS/article/view/JEHS.2021.11.0</strong><strong>9</strong><strong>.0</strong><strong>0</strong><strong>4</strong> <strong>https://zenodo.org/record/5387300</strong>           <strong>The journal has had 5 points in Ministry of Science and Higher Education parametric evaluation. § 8. 2) and § 12. 1. 2) 22.02.2019.</strong> <strong>© The Authors 2021;</strong> <strong>This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland</strong> <strong>Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike.</strong> <strong>(http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited.</strong> <strong>The authors declare that there is no conflict of interests regarding the publication of this paper.</strong>   <strong>Received: 15.08.2021. Revised: 15.08.2021. Accepted: 2</strong><strong>8</strong><strong>.08.2021.</strong>           <strong>PRION DISEASES: FATAL FAMILIAL INSOMNIA</strong>   <strong>Barbara Madoń*, Eryk Mikos, Justyna Nowaczek, Martyna Wasyluk, Natalia Wilczek</strong>   <em>Student Research Circle at the Chair and Department of Epidemiology and Clinical Research Methodology, Medical University of Lublin</em>   *barb.madon@gmail.com               <strong>Introduction. </strong>Fatal familial insomnia (FFI) is one of the transmissible spongiform encephathalopathies characterized by neuronal loss, sleep impairment, subsequent non-specific disturbances of autonomic nervous system (e.g. tachycardia) and endocrine dysfunctions. It is fatal autosomal dominant prion disease, which is extremaly rare- FFI affects only about one person per milion annually. The aim of this study is to review the literature and systematize knowledge about fatal familial insomnia. <strong>Brief description of the state of knowledge. </strong>The causative agent of this disease is a misfolded version of the physiological prion protein called PrP(Sc) in the brain.  Major vulnerable regions in FFI are mediodorsal and anterior ventral nuclei of the thalamus.  Average  survival time after the onset of symptoms is 18 months. Hence molecular mechanisms involved in pathogenesis are poorly understood, the disease is incureable yet. However, there are a number of therapeutic options currently under investigation, e.g. immunotherapy or doxycycline usage. <strong>Conclusions. </strong>Subsequent researches are essential to improve understending of fatal familial insomnia. The prime issue is to develop functioning therapeutic or preventive treatment. While some of presented terapeutic approches appers promising, all of them require profoud research.                     <strong>Key words: </strong>prion diseases; fatal familial insomnia; neurodegeneration; FFI treatment; prion

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4

Jürgens-Wemheuer, Wiebke, Arne Wrede, and Walter Schulz-Schaeffer. "Defining the Prion Type of Fatal Familial Insomnia." Pathogens 10, no. 10 (2021): 1293. http://dx.doi.org/10.3390/pathogens10101293.

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Fatal familial insomnia (FFI) belongs to the genetic human transmissible spongiform encephalopathies (TSE), such as genetic Creutzfeldt-Jakob disease (CJD) or Gerstmann-Straeussler-Scheinker syndrome (GSS). Here, we analyzed the properties of the pathological prion protein in six FFI cases by Western blot analysis, a protein aggregate stability assay, and aggregate deposition characteristics visualized with the paraffin-embedded tissue blot. While in all cases the unglycosylated fragment in Western blot analysis shared the same size with sporadic CJD prion type 2, the reticular/synaptic deposition pattern of the prion aggregates resembled the ones found in sporadic CJD type 1 (CJD types according to the Parchi classification from 1999). Regarding the conformational stability against denaturation with GdnHCl, FFI prion aggregates resembled CJD type 1 more than type 2. Our results suggest that the size of the proteinase-K-resistant fragments is not a valid criterion on its own. Additional criteria supplying information about conformational differences or similarities need to be taken into account. FFI may resemble a prion type with its own conformation sharing properties partly with type 1 and type 2 prions.

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5

Mikos, Eryk, Sara Moqbil, Joanna Dmochowska, Martyna Wasyluk, and Wanesa Góralczyk. "Non-invasive diagnostic methods for fatal familial insomnia." Journal of Education, Health and Sport 12, no. 7 (2022): 616–19. http://dx.doi.org/10.12775/jehs.2022.12.07.061.

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 Fatal familial insomia (FFI) is a dominant autosomal genetic prion disease characterised by progressive sleep impairment, autonomic nervous system disorders and motor symptoms associated with significant loss of nerve cells in the medial thalamic nuclei.   Making a diagnosis of FFI requires the presence of a certain or probable recognised first-degree relative of the patient, together with neuropsychiatric disorders present. In turn, the detection of the PrP mutation allows the diagnosis to be definitively established. In addition, three other tests - polysomnography, brain imaging and cerebrospinal fluid examination - can be helpful.    Fatal familial insomnia is not a fully understood disease. Diagnosis is based on the presence of symptoms of the disease. An important step in diagnosis will be the development of non-invasive diagnostic tests that are reliable in the early and presymptomatic stages of the disease. Polysomnography, imaging studies (PET, SPECT) and cerebrospinal fluid examination should be improved and widely accepted.

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6

Patel, Dharmini, Hagar Ibrahim, Julia Rankin, et al. "Fatal insomnia: the elusive prion disease." BMJ Case Reports 14, no. 6 (2021): e241289. http://dx.doi.org/10.1136/bcr-2020-241289.

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A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient died from pneumonia and pulmonary embolus. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI); the diagnosis was confirmed on genetic testing. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP. Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. Patient management is with best supportive care and early suspected diagnosis allows for timely palliation.

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Kiat, Richard Teo Soon, and Law Wan Chung. "Insomnia as a benign presentation of fatal familial insomnia (FFI). A case report from Malaysia." Asian Journal of Medical Sciences 12, no. 8 (2021): 155–57. http://dx.doi.org/10.3126/ajms.v12i8.37988.

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Fatal familial insomnia (FFI) is an extremely rare autosomal dominant prion disease. The chief clinical features include an organic sleep disorder associated with sympathetic overdrive, motor and bulbar compromise as well as progressive cognitive decline. Death ensures in 100% of cases with a mean survival duration of 18 months from time of symptom onset. Treatment strategies in the management of FFI remains largely symptomatic with greater emphasis placed on palliative care services. We report a case of a 31-year old gentleman (Mr G) who presented with insomnia, sleep behavior disturbances, diplopia, myoclonus and transient global amnesia. A family history of a paternal aunt with similar presentation who passed away raised the suspicion of probable FFI, which was subsequently confirmed by genetic testing. Mr G is the first reported definitive FFI case of Malaysian Chinese descent. Standard MRI imaging and CSF analyses are insufficient in the workup of an individual with probable FFI. PET scan, polysomnogram and genetic studies are required for cases with high index of suspicion. In view of the rapid progression of the disease with significant cognitive impairment within months of symptom onset, we advocate for early diagnosis and a biopsychosocial patient-centered treatment approach.

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Teo, Richard Soon Kiat, and Law Wan Chung. "Insomnia as a benign presentation of fatal familial insomnia (FFI). A case report from Malaysia." Asian Journal of Medical Sciences 12, no. 8 (2021): 155–57. https://doi.org/10.71152/ajms.v12i8.3642.

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Fatal familial insomnia (FFI) is an extremely rare autosomal dominant prion disease. The chief clinical features include an organic sleep disorder associated with sympathetic overdrive, motor and bulbar compromise as well as progressive cognitive decline. Death ensures in 100% of cases with a mean survival duration of 18 months from time of symptom onset. Treatment strategies in the management of FFI remains largely symptomatic with greater emphasis placed on palliative care services. We report a case of a 31-year old gentleman (Mr G) who presented with insomnia, sleep behavior disturbances, diplopia, myoclonus and transient global amnesia. A family history of a paternal aunt with similar presentation who passed away raised the suspicion of probable FFI, which was subsequently confirmed by genetic testing. Mr G is the first reported definitive FFI case of Malaysian Chinese descent. Standard MRI imaging and CSF analyses are insufficient in the workup of an individual with probable FFI. PET scan, polysomnogram and genetic studies are required for cases with high index of suspicion. In view of the rapid progression of the disease with significant cognitive impairment within months of symptom onset, we advocate for early diagnosis and a biopsychosocial patient-centered treatment approach.

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9

Bauer, Susanne, Lars Dittrich, Lech Kaczmarczyk, Melvin Schleif, Rui Benfeitas, and Walker S. Jackson. "Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons." Life Science Alliance 5, no. 11 (2022): e202201530. http://dx.doi.org/10.26508/lsa.202201530.

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Selective neuronal vulnerability is common in neurodegenerative diseases but poorly understood. In genetic prion diseases, including fatal familial insomnia (FFI) and Creutzfeldt–Jakob disease (CJD), different mutations in the Prnp gene manifest as clinically and neuropathologically distinct diseases. Here we report with electroencephalography studies that theta waves are mildly increased in 21 mo old knock-in mice modeling FFI and CJD and that sleep is mildy affected in FFI mice. To define affected cell types, we analyzed cell type–specific translatomes from six neuron types of 9 mo old FFI and CJD mice. Somatostatin (SST) neurons responded the strongest in both diseases, with unexpectedly high overlap in genes and pathways. Functional analyses revealed up-regulation of neurodegenerative disease pathways and ribosome and mitochondria biogenesis, and down-regulation of synaptic function and small GTPase-mediated signaling in FFI, implicating down-regulation of mTOR signaling as the root of these changes. In contrast, responses in glutamatergic cerebellar neurons were disease-specific. The high similarity in SST neurons of FFI and CJD mice suggests that a common therapy may be beneficial for multiple genetic prion diseases.

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10

Cuadrado-Corrales, Natividad, Ana Lopez-de-Andres, Valentín Hernández-Barrera, et al. "Creutzfeldt–Jakob Disease and Fatal Familial Insomnia: Demographics and In-Hospital Mortality in Spain." Journal of Clinical Medicine 13, no. 15 (2024): 4401. http://dx.doi.org/10.3390/jcm13154401.

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Background: Creutzfeldt–Jakob disease (CJD) and fatal familial insomnia (FFI) are prion diseases characterized by severe neurodegenerative conditions and a short duration of illness. Methods: This study explores the characteristics of hospitalizations for CJD and FFI in Spain from 2016 to 2022 using the Spanish National Hospital Discharge Database (SNHDD). Results: We identified a total of 1063 hospital discharges, including 1020 for CJD and 43 for FFI. Notably, the number of hospitalized patients with FFI showed a significant peak in 2017. The average length of hospital stay (LOHS) was 13 days for CJD and 6 days for FFI, with in-hospital mortality rates (IHM) of 36.37% for CJD and 32.56% for FFI. Among CJD patients, the average LOHS was 14 days, with a significantly longer duration for those who experienced IHM. Conclusions: The presence of sepsis or pneumonia and older age were associated with a higher IHM rate among CJD patients. The total estimated cost for managing CJD and FFI patients over the study period was EUR 6,346,868. This study offers new insights into the epidemiology and healthcare resource utilization of CJD and FFI patients, which may inform future research directions and public health strategies.

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Liu, RR, N. Bendahan, DE Briggs, GH Jansen, S. Taylor, and LB Lomax. "P.088 Dysautonomia and Diabetes: A Prodrome to Fatal Familial Insomnia (FFI)." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 48, s3 (2021): S44. http://dx.doi.org/10.1017/cjn.2021.366.

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Background: Fatal Familial Insomnia (FFI) is an autosomal dominant multisystem prion disease, with sleep disorders often being the first presentation. Although autonomic dysfunctions are key features, the frequency and timing vary between reports, and may accompany early insomnia. Moreover, endocrine changes are reported, but diabetes rarely is - with unclear timing of onset in relation to the insomnia. Methods: N/A Results: Here we present a 46-year-old previously healthy male, who within 22 months prior to the onset of sleep disturbances, developed hypertension and diabetes. Then within 3-4 months after onset of sleep disturbances development tachycardia and diaphoresis. His sleep continued to deteriorate, and later developed bulbar impairment, ataxia, diplopia, sleep apnea and cognitive decline. He passed away 20 months from onset of insomnia. Polysomnography showed status dissociates and central apnea. He had positive genetic testing, PRNP c.532G>A (p.Asp178Asn) and PRNP c.385A>G (pMet129Val), a pathological confirmation, and a positive family history Conclusions: Here diabetes and hypertension significantly preceded sleep disturbances, and tachycardia and diaphoresis developed shortly after. This illustrates that dysautonomia and endocrine dysfunction may be unrecognized prodromes in some cases of FFI, and could be an early marker of clinical disease onset and therapeutic interventions, especially in genetically confirmed asymptotic patients.

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Mikos, Eryk, Sara Moqbil, Joanna Dmochowska, Martyna Wasyluk, and Wanesa Góralczyk. "Non-invasive diagnostic methods for fatal familial insomnia." Journal of Education, Health and Sport 12, no. 7 (2022): 616–19. https://doi.org/10.12775/JEHS.2022.12.07.061.

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<strong>Mikos Eryk, Moqbil Sara, Dmochowska</strong><strong> Joanna, </strong><strong>Wasyluk Martyna, Góralczyk Wanesa</strong><strong>. Non-invasive diagnostic methods for fatal familial insomnia. J</strong><strong>ournal of Education, Heal</strong><strong>th and Sport. 2022;12(7):616-619</strong><strong>. eISSN 2391-8306. DOI </strong><strong>http://dx.doi.org/10.12775/JEHS.2022.12.07.061</strong> <strong>https://apcz.umk.pl/JEHS/article/view/JEHS.2022.12.07.061</strong> <strong>https://zenodo.org/record/6892896</strong>         <strong>The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343.</strong> <strong>Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences).</strong>   <strong>Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159.</strong> <strong>Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu).</strong>   <strong>© The Authors 2022;</strong> <strong>This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland</strong> <strong>Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike.</strong> <strong>(http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited.</strong> <strong>The authors declare that there is no conflict of interests regarding the publication of this paper.</strong>   <strong>Received: 10.07.2022. Revised: 17.07.2022. Accepted: 24.07.2022.</strong>         <strong>Non-invasive diagnostic methods for fatal familial insomnia</strong>   <strong>Nieinwazyjne metody diagnostyczne śmiertelnej dziedzicznej bezsenności</strong>   <strong>Eryk Mikos, Sara Moqbil</strong><strong>, </strong><strong>Joanna Dmochowska, </strong><strong>Martyna Wasyluk, Wanesa Góralczyk</strong>   Uniwersytet Medyczny w Lublinie   Corresponding author: Eryk Mikos, mikoseryk@gmail.com   ORCID ID and e-mail: Eryk Mikos https://orcid.org/0000-0003-0507-2882, mikoseryk@gmail.com Sara Moqbil https://orcid.org/0000-0003-1230-1444, saramoqbil1@gmail.com Joanna Dmochowska https://orcid.org/0000-0003-0396-2363, asia.dmo@gmail.com Martyna Wasyluk https://orcid.org/0000-0001-5897-7568, martynaxwasyluk@gmail.com Wanesa Góralczyk https://orcid.org/0000-0001-5804-2869, wanesagoralczyk@gmail.com   <strong>Abstract</strong> Fatal familial insomia (FFI) is a dominant autosomal genetic prion disease characterised by progressive sleep impairment, autonomic nervous system disorders and motor symptoms associated with significant loss of nerve cells in the medial thalamic nuclei. Making a diagnosis of FFI requires the presence of a certain or probable recognised first-degree relative of the patient, together with neuropsychiatric disorders present. In turn, the detection of the PrP mutation allows the diagnosis to be definitively established. In addition, three other tests - polysomnography, brain imaging and cerebrospinal fluid examination - can be helpful. Fatal familial insomnia is not a fully understood disease. Diagnosis is based on the presence of symptoms of the disease. An important step in diagnosis will be the development of non-invasive diagnostic tests that are reliable in the early and presymptomatic stages of the disease. Polysomnography, imaging studies (PET, SPECT) and cerebrospinal fluid examination should be improved and widely accepted.   <strong>Keywords:</strong> fatal familial insomnia; diagnostic methods; polysomnography; imaging tests; cerebrospinal fluid biomarkers   <strong>Abstrakt</strong> Śmiertelna dziedziczna bezsenność (FFI) jest dominującą autosomalną genetyczną chorobą prionową charakteryzującą się postępującym upośledzeniem snu, zaburzeniami autonomicznego układu nerwowego i objawami ruchowymi związanymi ze znaczną utratą komórek nerwowych w jądrach przyśrodkowych wzgórza. Postawienie diagnozy FFI wymaga obecności pewnego lub prawdopodobnego rozpoznanego krewnego pierwszego stopnia pacjenta wraz z obecnymi zaburzeniami neuropsychiatrycznymi. Z kolei wykrycie mutacji PrP pozwala na ostateczne ustalenie rozpoznania. Dodatkowo pomocne mogą być trzy inne badania – polisomnografia, obrazowanie mózgu i badanie płynu mózgowo-rdzeniowego. Śmiertelna dziedziczna bezsenność nie jest w pełni poznaną chorobą. Diagnoza opiera się na obecności objawów choroby. Ważnym krokiem w diagnostyce będzie opracowanie nieinwazyjnych testów diagnostycznych, które są niezawodne we wczesnych i przedobjawowych stadiach choroby. Polisomnografia, badania obrazowe (PET, SPECT) i badanie płynu mózgowo-rdzeniowego powinny zostać ulepszone i powszechnie akceptowane.   <strong>Słowa kluczowe:</strong> śmiertelna dziedziczna bezsenność; metody diagnostyczne; polisomnografia; badania obrazowe; biomarkery płynu mózgowo-rdzeniowego

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Shpilyukova, Yulia A., Yury A. Seliverstov, and Evgeniy P. Nuzhny. "A clinical case of fatal familial insomnia with a transient positive response to corticosteroids." Annals of Clinical and Experimental Neurology 14, no. 4 (2020): 88–95. https://doi.org/10.25692/acen.2020.4.12.

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Fatal familial insomnia (FFI) is a rare genetic human prion disease with an autosomal dominant pattern of inheritance caused by a D178N mutation in the PRNP gene. FFI is characterized by a variable clinical presentation and subacute manifestation. The latter prompts to consider autoimmune encephalitis as a differential diagnosis in the diagnostically challenging patients. Here, we present a clinical case of FFI that was initially misdiagnosed with autoimmune encephalitis. A 26-year-old woman presented with rapid development of diverse neurological features, autonomic and endocrine disturbances, which initially were considered as manifestations of an autoimmune disease due to the lack of clear indications of positive family history. She was started on corticosteroids with temporary stabilization and even with a mild improvement for several months. Progressive deterioration of her symptoms with development of the psychiatric and cognitive impairment, as well as subsequently received additional information regarding positive family history, prompted us to perform a PRNP gene test that revealed a D178N mutation and confirmed an FFI diagnosis.

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Iaccarino, Leonardo, Luca Presotto, Valentino Bettinardi, et al. "An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia." Annals of Clinical and Translational Neurology 5, no. 1 (2017): 11–18. https://doi.org/10.1002/acn3.498.

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Abstract 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-129<sup>met</sup> FFI mutation, one symptomatic patient (male, 45 yrs. old), and nine healthy controls (HC) (mean ± SD age: 44.00 ± 11.10 years.) for comparisons. <sup>11</sup>C-(R)-PK11195 PET allowed the measurement of Translocator Protein (TSPO) overexpression, indexing microglia activation. A clustering algorithm was adopted to define subject-specific reference regions. Voxel-wise statistical analyses were performed on <sup>11</sup>C-(R)-PK11195 binding potential (BP) images both at the group and individual level. Results: The D178N-129<sup>met/val</sup> FFI patient showed significant <sup>11</sup>C-(R)-PK11195 BP increases in the midbrain, cerebellum, anterior thalamus, anterior cingulate cortex, orbitofrontal cortex, and anterior insula, bilaterally. Similar TSPO increases, but limited to limbic structures, were observed in four out of eight presymptomatic carriers. The only carrier with the codon 129<sup>met/val</sup> polymorphism was the only one showing an additional TSPO increase in the anterior thalamus. Interpretation: In comparison to nonprion neurodegenerative diseases, the observed lack of a diffuse brain TSPO overexpression in preclinical and the clinical FFI cases suggests the presence of a different microglia response. The involvement of limbic structures might indicate a role for microglia activation in these key pathologic regions, known to show the most significant neuronal loss and functional deafferentation in FFI.

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Froböse, T., H. Förstl, and A. Förschler. "Fatal Familial Insomnia (FFI) Complicated by Posterior Reversible Encephalopathy Syndrome (PRES)." Clinical Neuroradiology 24, no. 3 (2013): 289–91. http://dx.doi.org/10.1007/s00062-013-0243-9.

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16

Zhang, Jing, Min Chu, ZiChen Tian, et al. "Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions." Journal of Neurology, Neurosurgery & Psychiatry 93, no. 3 (2021): 291–97. http://dx.doi.org/10.1136/jnnp-2021-327247.

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ObjectiveElucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI).MethodsA worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing were collected. The prevalence of clinical symptoms and genetic profile were obtained, and then the phenotypic comparison between Asians versus non-Asians and 129Met/Met versus 129Met/Val were conducted.ResultsIn total, 131 cases were identified. The age of onset was 47.51±12.53 (range 17–76) years, 106 patients died and disease duration was 13.20±9.04 (range 2–48) months. Insomnia (87.0%) and rapidly progressive dementia (RPD; 83.2%) occurred with the highest frequency. Hypertension (33.6%) was considered to be an objective indicator of autonomic dysfunction. Genotype frequency at codon 129 was Met/Met (84.7%) and Met/Val (15.3%), and allele frequency was Met (92.4%) and Val (7.6%).129 Met was a risk factor (OR: 3.728, 95% CI: 2.194 to 6.333, p=0.000) for FFI in the non-Asian population. Comparison of Asians and non-Asians revealed clinical symptoms and genetic background to show some differences (p<0.05). In the comparison of 129 polymorphisms, a longer disease duration was found in the 129 MV group, with alleviation of some clinical symptoms (p<0.05). After considering survival probability, significant differences in survival time between genotypes remained (p<0.0001).ConclusionsInsomnia, RPD and hypertension are representative key clinical presentations of FFI. Phenotypic variations in genotypes and geographic regions were documented. Prion protein gene 129 Met was considered to be a risk factor for FFI in the non-Asian population, and 129 polymorphisms could modify survival duration.

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Thüne, Katrin, Matthias Schmitz, John Wiedenhöft, et al. "Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia." Cells 12, no. 16 (2023): 2053. http://dx.doi.org/10.3390/cells12162053.

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Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease with a wide variability in age of onset. Its causes are not known. In the present study, we aimed to analyze genetic risk factors other than the prion protein gene (PRNP), in FFI patients with varying ages of onset. Whole-exome sequencing (WES) analysis was performed for twenty-five individuals with FFI (D178N-129M). Gene ontology enrichment analysis was carried out by Reactome to generate hypotheses regarding the biological processes of the identified genes. In the present study, we used a statistical approach tailored to the specifics of the data and identified nineteen potential gene variants with a potential effect on the age of onset. Evidence for potential disease modulatory risk loci was observed in two pseudogenes (NR1H5P, GNA13P1) and three protein coding genes (EXOC1L, SRSF11 and MSANTD3). These genetic variants are absent in FFI patients with early disease onset (19–40 years). The biological function of these genes and PRNP is associated with programmed cell death, caspase-mediated cleavage of cytoskeletal proteins and apoptotic cleavage of cellular proteins. In conclusions, our study provided first evidence for the involvement of genetic risk factors additional to PRNP, which may influence the onset of clinical symptoms in FFI.

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Araujo, Abelardo Q.-C. "Prionic diseases." Arquivos de Neuro-Psiquiatria 71, no. 9B (2013): 731–37. http://dx.doi.org/10.1590/0004-282x201301461.

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Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD) and its variants, Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI)] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

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Lindsley, Craig W. "Genetic and Rare Disease of the CNS. Part I: Fatal Familial Insomnia (FFI)." ACS Chemical Neuroscience 8, no. 12 (2017): 2570–72. http://dx.doi.org/10.1021/acschemneuro.7b00463.

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Foliaki, Simote T., Anna Smith, Benjamin Schwarz, et al. "Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction." PLOS Genetics 19, no. 1 (2023): e1010565. http://dx.doi.org/10.1371/journal.pgen.1010565.

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Fatal familial insomnia (FFI) is a rare neurodegenerative disease caused by a dominantly inherited single amino acid substitution (D178N) within the prion protein (PrP). No in vitro human brain tissue model for this disease has previously been available. Consequently, how this mutation exerts its damaging effect on brain cells is still unknown. Using CRISPR-Cas9 engineered induced pluripotent stem cells, we made D178N cerebral organoids and compared these with isotype control organoids. We found that, in the absence of other hallmarks of FFI, the D178N organoids exhibited astrogliosis with cellular oxidative stress. Abnormal post-translational processing of PrP was evident but no tissue deposition or propagation of mis-folded PrP isoforms were observed. Neuronal electrophysiological function was compromised and levels of neurotransmitters, particularly acetylcholine and GABA, altered. Underlying these dysfunctions were changes in cellular energy homeostasis, with substantially increased glycolytic and Krebs cycle intermediates, and greater mitochondrial activity. This increased energy demand in D178N organoids was associated with increased mitophagy and depletion of lipid droplets, in turn resulting in shifts of cellular lipid composition. Using a double mutation (178NN) we could confirm that most changes were caused by the presence of the mutation rather than interaction with PrP molecules lacking the mutation. Our data strongly suggests that shifting biosynthetic intermediates and oxidative stress, caused by an imbalance of energy supply and demand, results in astrogliosis with compromised neuronal activity in FFI organoids. They further support that many of the disease associated changes are due to a corruption of PrP function and do not require propagation of PrP mis-folding.

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Garay, Arturo, Susana Blanco, Diego Castro, Paola Fassano, and Rivero Alberto. "M-E-049 AGRYPNIA EXCITATA: POLYSOMNOGRAPHIC FINDINGS IN LIMBIC AUTOINMUNE ENCEPHALOPATHY (LAE) AND FATAL FAMILIAL INSOMNIA (FFI)." Sleep Medicine 12 (September 2011): S35. http://dx.doi.org/10.1016/s1389-9457(11)70127-7.

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Guerra, A. Asencio, A. Alvarez Ruiz De Larrinaga, C. Egea Santaolalla, J. Durán Cantolla, E. Alvarez Vadillo, and F. Julián Villaverde. "Fatal familial insomnia (FFI) in Basque country. Clinical manifestations, polysomnographic patterns and pathologic findings in three cases." Sleep Medicine 14 (December 2013): e144-e145. http://dx.doi.org/10.1016/j.sleep.2013.11.328.

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Walsh, Daniel J., Judy R. Rees, Surabhi Mehra, et al. "Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease." PLOS Pathogens 20, no. 4 (2024): e1012087. http://dx.doi.org/10.1371/journal.ppat.1012087.

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Prion diseases uniquely manifest in three distinct forms: inherited, sporadic, and infectious. Wild-type prions are responsible for the sporadic and infectious versions, while mutant prions cause inherited variants like fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). Although some drugs can prolong prion incubation times up to four-fold in rodent models of infectious prion diseases, no effective treatments for FFI and fCJD have been found. In this study, we evaluated the efficacy of various anti-prion drugs on newly-developed knock-in mouse models for FFI and fCJD. These models express bank vole prion protein (PrP) with the pathogenic D178N and E200K mutations. We applied various drug regimens known to be highly effective against wild-type prions in vivo as well as a brain-penetrant compound that inhibits mutant PrPSc propagation in vitro. None of the regimens tested (Anle138b, IND24, Anle138b + IND24, cellulose ether, and PSCMA) significantly extended disease-free survival or prevented mutant PrPSc accumulation in either knock-in mouse model, despite their ability to induce strain adaptation of mutant prions. Our results show that anti-prion drugs originally developed to treat infectious prion diseases do not necessarily work for inherited prion diseases, and that the recombinant sPMCA is not a reliable platform for identifying compounds that target mutant prions. This work underscores the need to develop therapies and validate screening assays specifically for mutant prions, as well as anti-prion strategies that are not strain-dependent.

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Thackray, Alana M., Alzbeta Cardova, Hanna Wolf, et al. "Genetic human prion disease modelled in PrP transgenic Drosophila." Biochemical Journal 474, no. 19 (2017): 3253–67. http://dx.doi.org/10.1042/bcj20170462.

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Inherited human prion diseases, such as fatal familial insomnia (FFI) and familial Creutzfeldt–Jakob disease (fCJD), are associated with autosomal dominant mutations in the human prion protein gene PRNP and accumulation of PrPSc, an abnormal isomer of the normal host protein PrPC, in the brain of affected individuals. PrPSc is the principal component of the transmissible neurotoxic prion agent. It is important to identify molecular pathways and cellular processes that regulate prion formation and prion-induced neurotoxicity. This will allow identification of possible therapeutic interventions for individuals with, or at risk from, genetic human prion disease. Increasingly, Drosophila has been used to model human neurodegenerative disease. An important unanswered question is whether genetic prion disease with concomitant spontaneous prion formation can be modelled in Drosophila. We have used pUAST/PhiC31-mediated site-directed mutagenesis to generate Drosophila transgenic for murine or hamster PrP (prion protein) that carry single-codon mutations associated with genetic human prion disease. Mouse or hamster PrP harbouring an FFI (D178N) or fCJD (E200K) mutation showed mild Proteinase K resistance when expressed in Drosophila. Adult Drosophila transgenic for FFI or fCJD variants of mouse or hamster PrP displayed a spontaneous decline in locomotor ability that increased in severity as the flies aged. Significantly, this mutant PrP-mediated neurotoxic fly phenotype was transferable to recipient Drosophila that expressed the wild-type form of the transgene. Collectively, our novel data are indicative of the spontaneous formation of a PrP-dependent neurotoxic phenotype in FFI- or CJD-PrP transgenic Drosophila and show that inherited human prion disease can be modelled in this invertebrate host.

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Liberski, Paweł. "Tubulovesicular structures are present in brains of hamsters infected with the Echigo-1 strain of Creutzfeldt-Jakob disease agent." Acta Neurobiologiae Experimentalis 68, no. 1 (2008): 39–42. http://dx.doi.org/10.55782/ane-2008-1670.

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Tubulovesicular structures (particles; TVS) are virion-like particles 25–30 nm in diameter found by thin-section electron microscopy in brains of all prion diseases including scrapie, Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI) and Gerstmann-Sträussler-Scheineker disease (GSS), as well as in cell cultures infected with TSE agents. TVS are regarded as a disease-specific ultrastructural marker for TSEs and, by those not completely satisfied with the prion hypothesis, they are even considered to be a possible candidate for the infectious TSE agent itself. A caveat regarding that interpretation stemmed from previous failures to find TVS by electron microscopic studies of tissues from animals infected with the Echigo-1 strain of CJD agent. We now report detecting TVS in brains of hamsters infected with that strain of CJD agent, albeit with a very low frequency.

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Bernardi, Livia, and Amalia C. Bruni. "Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review." International Journal of Molecular Sciences 20, no. 14 (2019): 3606. http://dx.doi.org/10.3390/ijms20143606.

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Inherited mutations in the Prion protein (PrP), encoded by the PRNP gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt–Jacob disease (CJD), Gerstmann–Sträussler–Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI). Notably, PRNP mutations have also been described in clinical pictures resembling other neurodegenerative diseases, such as frontotemporal dementia. Regarding the pathogenesis, it has been observed that these point mutations are located in the C-terminal region of the PRNP gene and, currently, the potential significance of the N-terminal domain has largely been underestimated. The purpose of this report is to review and provide current insights into the pathogenic mechanisms of PRNP mutations, emphasizing the differences between the C- and N-terminal regions and focusing, in particular, on the lesser-known flexible N-terminal, for which recent biophysical evidence has revealed a physical interaction with the globular C-terminal domain of the cellular prion protein (PrPC).

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27

Zerr, Inga, Anna Villar-Piqué, Vanda Edit Schmitz, et al. "Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients." Biomolecules 9, no. 12 (2019): 800. http://dx.doi.org/10.3390/biom9120800.

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The exploration of accurate diagnostic markers for differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous study on cerebrospinal fluid (CSF)-mitochondrial malate dehydrogenase 1 (MDH1) in sporadic Creutzfeldt–Jakob disease (sCJD) patients revealed a highly significant upregulation of MDH1. Here, we measured the CSF levels of MDH1 via enzyme-linked immunosorbent assay in a cohort of rare genetic prion disease cases, such as genetic CJD (gCJD) cases, exhibiting the E200K, V210I, P102L (Gerstmann–Sträussler–Scheinker syndrome (GSS)), or D178N (fatal familial insomnia (FFI)) mutations in the PRNP. Interestingly, we observed enhanced levels of CSF-MDH1 in all genetic prion disease patients compared to neurological controls (without neurodegeneration). While E200K and V210I carriers showed highest levels of MDH1 with diagnostic discrimination from controls of 0.87 and 0.85 area under the curve (AUC), FFI and GSS patients exhibited only moderately higher CSF-MDH1 levels than controls. An impact of the PRNP codon 129 methionine/valine (MV) genotype on the amount of MDH1 could be excluded. A correlation study of MDH1 levels with other neurodegenerative marker proteins revealed a significant positive correlation between CSF-MDH1 concentration with total tau (tau) but not with 14-3-3 in E200K, as well as in V210I patients. In conclusion, our study indicated the potential use of MDH1 as marker for gCJD patients which may complement the current panel of diagnostic biomarkers.

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28

Jackson, Walker S., Susanne Bauer, Lech Kaczmarczyk, and Srivathsa S. Magadi. "Selective Vulnerability to Neurodegenerative Disease: Insights from Cell Type-Specific Translatome Studies." Biology 13, no. 2 (2024): 67. http://dx.doi.org/10.3390/biology13020067.

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Neurodegenerative diseases (NDs) manifest a wide variety of clinical symptoms depending on the affected brain regions. Gaining insights into why certain regions are resistant while others are susceptible is vital for advancing therapeutic strategies. While gene expression changes offer clues about disease responses across brain regions, the mixture of cell types therein obscures experimental results. In recent years, methods that analyze the transcriptomes of individual cells (e.g., single-cell RNA sequencing or scRNAseq) have been widely used and have provided invaluable insights into specific cell types. Concurrently, transgene-based techniques that dissect cell type-specific translatomes (CSTs) in model systems, like RiboTag and bacTRAP, offer unique advantages but have received less attention. This review juxtaposes the merits and drawbacks of both methodologies, focusing on the use of CSTs in understanding conditions like amyotrophic lateral sclerosis (ALS), Huntington’s disease (HD), Alzheimer’s disease (AD), and specific prion diseases like fatal familial insomnia (FFI), genetic Creutzfeldt–Jakob disease (gCJD), and acquired prion disease. We conclude by discussing the emerging trends observed across multiple diseases and emerging methods.

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29

Jansen, C., P. Parchi, B. Jelles, et al. "The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits." Neuropathology and Applied Neurobiology 37, no. 5 (2011): 549–53. http://dx.doi.org/10.1111/j.1365-2990.2010.01126.x.

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30

Liberski, P. P. "Prion protein as a target for therapeutic interventions." Pure and Applied Chemistry 76, no. 5 (2004): 915–20. http://dx.doi.org/10.1351/pac200476050915.

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Transmissible spongiform encephalopathies (TSEs), currently known as prion diseases, are neurodegenerative disorders of the central nervous system (CNS) caused by an elusive infectious agent called “prion” (proteinaceous infectious particle). These dis orders include: kuru, Creutzfeldt –Jakob disease (CJD) and its variant (vCJD), Gerstmann–Sträussler–Scheinker (GSS) disease and fatal familial insomnia (FFI) in humans, scrapie in sheep and goats, bovine spongiform encephalopathy (BSE) or mad cow disease, and chronic wasting disease (CWD) in cervids. According to the widely accepted “prion hypothesis”, prion is an aggregate of the abnormal isoform of prion protein (PrPSc). Prion protein is a cell-derived glycoprotein (this normal isoform is called PrPc) encoded by a gene on chromosome 20 in humans (PRNP). In familial forms of TSEs, mutations within the ORF of PRNP are linked to the phenotypic expression of the disease. TSEs are important from public health perspective, and “mad cow disease has created the greatest threat to the safety of human food supply in modern times. vCJD threatens the safety of the blood supply worldwide”. Thus, to search for effective therapy is more than an urgent task. In TSEs, aggregates of PrPSc accumulate in the brain in a form of plaques, or synaptic deposits. The conversion of PrPc into PrPSc and subsequent deposits of PrPSc are targets for therapeutic interventions. These include: tricyclic compounds—acridine and phenothiazine derivatives; quinacrine; anti-PrPSc antibodies; dendrimers; polyethylene antibiotics (amphotericin B, MS-8209); pentosan polysulfate; and dextran sulfate. All these compounds are active in many in vitro and in vivo assays, but not proved definitely active in humans. Thus, albeit interesting and promising, the chemotherapy of TSEs is still in the infant phase.

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31

Tian, Chan, Di Liu, Wei Xiang, et al. "Analyses of the Similarity and Difference of Global Gene Expression Profiles in Cortex Regions of Three Neurodegenerative Diseases: Sporadic Creutzfeldt-Jakob Disease (sCJD), Fatal Familial Insomnia (FFI), and Alzheimer’s Disease (AD)." Molecular Neurobiology 50, no. 2 (2014): 473–81. http://dx.doi.org/10.1007/s12035-014-8758-x.

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32

Kim, Dan Yeong, Kyu Hwan Shim, Eva Bagyinszky, and Seong Soo A. An. "Prion Mutations in Republic of Republic of Korea, China, and Japan." International Journal of Molecular Sciences 24, no. 1 (2022): 625. http://dx.doi.org/10.3390/ijms24010625.

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Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt–Jakob Disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer’s disease, dementia with Lewy bodies, Parkinson’s disease, and frontotemporal dementia. In this review, we describe prion mutations in Asian countries, including Republic of Republic of Korea, China, and Japan. Clinical phenotypes and imaging data related to these mutations have also been introduced in detail. Several prion mutations are specific to Asians and have rarely been reported in countries outside Asia. For example, PRNP V180I and M232R, which are rare in other countries, are frequently detected in Republic of Korea and Japan. PRNP T188K is common in China, and E200K is significantly more common among Libyan Jews in Israel. The A117V mutation has not been detected in any Asian population, although it is commonly reported among European GSS patients. In addition, V210I or octapeptide insertion is common among European CJD patients, but relatively rare among Asian patients. The reason for these differences may be geographical or ethical isolation. In terms of clinical phenotypes, V180I, P102L, and E200K present diverse clinical symptoms with disease duration, which could be due to other genetic and environmental influences. For example, rs189305274 in the ACO1 gene may be associated with neuroprotective effects in cases of V180I mutation, leading to longer disease survival. Additional neuroprotective variants may be possible in cases featuring the E200K mutation, such as KLKB1, KARS, NRXN2, LAMA3, or CYP4X1. E219K has been suggested to modify the disease course in cases featuring the P102L mutation, as it may result in the absence of prion protein-positive plaques in tissue stained with Congo red. However, these studies analyzed only a few patients and may be too preliminary. The findings need to be verified in studies with larger sample sizes or in other populations. It would be interesting to probe additional genetic factors that cause disease progression or act as neuroprotective factors. Further studies are needed on genetic modifiers working with prions and alterations from mutations.

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33

Gistau, Vanessa Sanchez, Luis Pintor, Silvia Matrai, and Albert Saiz. "Fatal Familial Insomnia." Psychosomatics 47, no. 6 (2006): 527–28. http://dx.doi.org/10.1176/appi.psy.47.6.527.

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34

Gordon, N. "FATAL FAMILIAL INSOMNIA." Journal of the Royal College of Physicians of Edinburgh 34, no. 2 (2004): 106–8. https://doi.org/10.1177/1478271520043402011.

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35

Billiard, Michel. "Fatal familial insomnia." Sleep Medicine Reviews 9, no. 5 (2005): 337–38. http://dx.doi.org/10.1016/j.smrv.2005.07.001.

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36

Rhymes, Chris. "Fatal familial insomnia." British Journal of Neuroscience Nursing 2, no. 4 (2006): 188. http://dx.doi.org/10.12968/bjnn.2006.2.4.21515.

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37

Spacey, Sian D., Manuela Pastore, Barbara McGillivray, Jonathan Fleming, Pierluigi Gambetti, and Howard Feldman. "Fatal Familial Insomnia." Archives of Neurology 61, no. 1 (2004): 122. http://dx.doi.org/10.1001/archneur.61.1.122.

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38

Capellari, S., P. Parchi, P. Cortelli, et al. "SPORADIC FATAL INSOMNIA IN A FATAL FAMILIAL INSOMNIA PEDIGREE." Neurology 70, no. 11 (2008): 884–85. http://dx.doi.org/10.1212/01.wnl.0000287140.94379.52.

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Montagna, Pasquale, Pierluigi Gambetti, Pietro Cortelli, and Elio Lugaresi. "Familial and sporadic fatal insomnia." Lancet Neurology 2, no. 3 (2003): 167–76. http://dx.doi.org/10.1016/s1474-4422(03)00323-5.

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40

Habteslassie, Daniel, Marcus McMahon, and Hari Wimaleswaran. "Can insomnia be fatal? An Australian case of fatal familial insomnia." Internal Medicine Journal 52, no. 4 (2022): 667–70. http://dx.doi.org/10.1111/imj.15737.

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41

Chen, S. G., P. Parchi, P. Brown, R. P. Roos, C. L. Vnencak-Jones, and P. Gambetti. "FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFEDT-JAKOB DISEASE." Journal of Neuropathology and Experimental Neurology 55, no. 5 (1996): 636. http://dx.doi.org/10.1097/00005072-199605000-00135.

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42

Wix Ramos, R., L. López Viñas, C. Luque Cárdenas, and E. Rocio Martín. "Fatal familial insomnia: a case report." Sleep Medicine 100 (December 2022): S121. http://dx.doi.org/10.1016/j.sleep.2022.05.333.

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43

Silburn, P., L. Cervenakova, P. Varghese, A. Tannenberg, P. Brown, and R. Boyle. "Fatal familial insomnia: A seventh family." Neurology 47, no. 5 (1996): 1326–28. http://dx.doi.org/10.1212/wnl.47.5.1326.

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Cortelli, Pietro, Piero Parchi, Manuela Contin, et al. "Cardiovascular dysautonomia in fatal familial insomnia." Clinical Autonomic Research 1, no. 1 (1991): 15–21. http://dx.doi.org/10.1007/bf01826053.

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45

Lugaresi, Elio, Irene Tobler, Pierluigi Gambetti, and Pasquale Montagna. "The Pathophysiology of Fatal Familial Insomnia." Brain Pathology 8, no. 3 (2006): 521–26. http://dx.doi.org/10.1111/j.1750-3639.1998.tb00173.x.

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Dorandeu, Anne, Laure Wingertsmann, Fabrice Chrétien, et al. "Neuronal Apoptosis in Fatal Familial Insomnia." Brain Pathology 8, no. 3 (2006): 531–37. http://dx.doi.org/10.1111/j.1750-3639.1998.tb00175.x.

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Parchi, Piero, Robert B. Petersen, Shu G. Chen, et al. "Molecular Pathology of Fatal Familial Insomnia." Brain Pathology 8, no. 3 (2006): 539–48. http://dx.doi.org/10.1111/j.1750-3639.1998.tb00176.x.

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Cortelli, Pietro, Margherita Fabbri, Giovanna Calandra-Buonaura, et al. "Gait disorders in fatal familial insomnia." Movement Disorders 29, no. 3 (2013): 420–24. http://dx.doi.org/10.1002/mds.25786.

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Almer, G., J. A. Hainfellner, T. Brücke, et al. "Fatal familial insomnia: a new Austrian family." Brain 122, no. 1 (1999): 5–16. http://dx.doi.org/10.1093/brain/122.1.5.

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Gallassi, R., A. Morreale, P. Montagna, et al. "Fatal familial insomnia: Behavioral and cognitive features." Neurology 46, no. 4 (1996): 935–39. http://dx.doi.org/10.1212/wnl.46.4.935.

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