Proposal of new diagnostic criteria for fatal familial insomnia
ConclusionsWe propose new clinical diagnostic criteria for FFI, for a better refining of the clinical hallmarks of the disease that ultimately would help an early recognition of FFI and a better differentiation from other prion diseases. (Source: Journal of Neurology)
Source: Journal of Neurology - May 3, 2022 Category: Neurology Source Type: research
Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions
Conclusions
Insomnia, 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. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - February 15, 2022 Category: Neurosurgery Authors: Zhang, J., Chu, M., Tian, Z., Xie, K., Cui, Y., Liu, L., Meng, J., Yan, H., Ji, Y.-M., Jiang, Z., Xia, T.-X., Wang, D., Wang, X., Zhao, Y., Ye, H., Li, J., Wang, L., Wu, L. Tags: Open access Neurodegeneration Source Type: research
A case of fatal familial insomnia: diagnostic and therapeutic approaches
Neurocase. 2022 Jan 17:1-4. doi: 10.1080/13554794.2021.2025249. Online ahead of print.ABSTRACT Fatal Familial Insomnia (FFI) is an uncommon but fatal genetic condition that is characterized by severe progressive insomnia, dysautonomia, neuropsychiatric changes, and gait instability. Diagnostic workup includes genetic testing, EEG, MRI imaging of the brain, polysomnography, and CSF analysis. MRI brain imaging may be notable for areas of restricted diffusion in the thalamus. Therapeutic approaches are centered on symptom management, predominantly for insomnia. It is important for clinicians to consider FFI in patients presen...
Source: Neurocase - January 17, 2022 Category: Neurology Authors: Deborah K Rose Andy J Liu Source Type: research
Human Prion Disease
AbstractHuman prion diseases (HPDs) are progressive and fatal neurodegenerative diseases caused by abnormal prion protein (PrPSc). They can be sporadic, genetic, or acquired. Sporadic HPDs include sporadic Creutzfeldt –Jakob disease (CJD) and sporadic fatal insomnia. Genetic HPDs include genetic CJD, Gerstman–Sträussler–Scheinker disease and fatal familial insomnia. Acquired HPDs include Kuru, variant CJD, and iatrogenic CJD. The World Health Organization clinical diagnostic criteria for HPDs include clini cal findings, cerebrospinal fluid (CSF) protein markers, and electroencephalography, and the UK and European cl...
Source: Clinical and Experimental Neuroimmunology - November 25, 2021 Category: Neurology Authors: Katsuya Satoh,
Tatsufumi Nakamura Tags: INVITED REVIEW Source Type: research
A fatal familial insomnia patient newly diagnosed as having depression: A case report
Conclusion:
PRNP examination is of guiding significance for the diagnosis of the FFI of depression. Hence, it is very necessary to perform PRNP examination in clinical diagnosis of FFI of depression. (Source: Medicine)
Source: Medicine - October 15, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease
AbstractHuman genetic prion diseases (gPrDs) are directly associated with mutations and insertions in thePRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50 –59 year group. Gerstmann–Sträussler–Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier t...
Source: Neuroscience Bulletin - September 6, 2021 Category: Neuroscience Source Type: research
Doxycycline rescues recognition memory and circadian motor rhythmicity but does not prevent terminal disease in fatal familial insomnia mice
Neurobiol Dis. 2021 Aug 3:105455. doi: 10.1016/j.nbd.2021.105455. Online ahead of print.ABSTRACTFatal familial insomnia (FFI) is a dominantly inherited prion disease linked to the D178N mutation in the gene encoding the prion protein (PrP). Symptoms, including insomnia, memory loss and motor abnormalities, appear around 50 years of age, leading to death within two years. No treatment is available. A ten-year clinical trial of doxycycline (doxy) is under way in healthy individuals at risk of FFI to test whether presymptomatic doxy prevents or delays the onset of disease. To assess the drug's effect in a tractable disease mo...
Source: Neurobiology of Disease - August 6, 2021 Category: Neurology Authors: Giada Lavigna Antonio Masone Ihssane Bouybayoune Ilaria Bertani Jacopo Lucchetti Marco Gobbi Luca Porcu Stefano Zordan Mara Rigamonti Luca Imeri Elena Restelli Roberto Chiesa Source Type: research
Prion diseases or transmissible spongiform encephalopathies
Rev Med Interne. 2021 Jun 17:S0248-8663(21)00451-3. doi: 10.1016/j.revmed.2021.05.002. Online ahead of print.ABSTRACTPrion diseases or transmissible spongiform encephalopathies (TSEs) are human and animal diseases naturally or experimentally transmissible with a long incubation period and a fatal course without remission. The nature of the transmissible agent remains debated but the absence of a structure evoking a conventional microorganism led Stanley B. Prusiner to hypothesize that it could be an infectious protein (proteinaceous infectious particle or prion). The prion would be the abnormal form of a normal protein, ce...
Source: Revue de Medecine Interne - June 21, 2021 Category: Internal Medicine Authors: J-P Brandel Source Type: research
TREM2 expression in the brain and biological fluids in prion diseases
AbstractTriggering receptor expressed on myeloid cells 2 (TREM2) is an innate immune cell surface receptor that regulates microglial function and is involved in the pathophysiology of several neurodegenerative diseases. Its soluble form (sTREM2) results from shedding of the TREM2 ectodomain. The role of TREM2 in prion diseases, a group of rapidly progressive dementias remains to be elucidated. In the present study, we analysed the expression of TREM2 and its main sheddase ADAM10 in the brain of sporadic Creutzfeldt-Jakob disease (sCJD) patients and evaluated the role of CSF and plasma sTREM2 as a potential diagnostic marke...
Source: Acta Neuropathologica - April 21, 2021 Category: Neurology Source Type: research
PMCA-generated prions from the olfactory mucosa of patients with Fatal Familial Insomnia cause prion disease in mice
(Source: eLife)
Source: eLife - April 14, 2021 Category: Biomedical Science Tags: Medicine Neuroscience Source Type: research
PMCA generated prions from the olfactory mucosa of patients with Fatal Familial Insomnia cause prion disease in mice
Background: Fatal Familial Insomnia (FFI) is a genetic prion disease caused by the D178N mutation in the prion protein gene (PRNP) in coupling phase with methionine atPRNP 129. In 2017, we have shown that the olfactory mucosa (OM) collected from FFI patients contained traces of PrPSc detectable by Protein Misfolding Cyclic Amplification (PMCA). (Source: eLife)
Source: eLife - April 14, 2021 Category: Biomedical Science Tags: Medicine Neuroscience Source Type: research
Thirty years of fatal familial insomnia and autonomic research: celebrating the past, embracing the future
(Source: Clinical Autonomic Research)
Source: Clinical Autonomic Research - February 3, 2021 Category: Research Source Type: research
Fatal Familial Insomnia with Early Dysautonomia and Diabetes.
PMID: 33272347 [PubMed - as supplied by publisher] (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - December 4, 2020 Category: Neurology Authors: Liu RR, Melanson M, Bendahan N, Briggs DE, Taylor SW, Boissé Lomax L Tags: Can J Neurol Sci Source Type: research
Fatal familial insomnia: A new case description with early response to immunotherapy
We present the case of a 46-year-old male with a rapidly progressive multidomain cognitive impairment, associated with instability in gait, myoclonus and persistent and progressive insomnia. (Source: Journal of Neuroimmunology)
Source: Journal of Neuroimmunology - July 9, 2020 Category: Allergy & Immunology Authors: E. Toribio-D íaz, Sonia Quintas, Alejandra Peláez-Hidalgo, Javier Villacieros-Álvarez, Elvira García Cobos, Erika García Di'Ruggiero Tags: Short Communication Source Type: research
