Non-invasive diagnostic methods for fatal familial insomnia
DOI:
https://doi.org/10.12775/JEHS.2022.12.07.061Keywords
fatal familial insomnia, diagnostic methods, polysomnography, imaging tests, cerebrospinal fluid biomarkersAbstract
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.
References
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer; Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations; Curr Neurol Neurosci Rep. 2017 Apr;17(4):30. doi: 10.1007/s11910-017-0743-0.
Laura Cracco, Brian S Appleby, Pierluigi Gambetti; Fatal familial insomnia and sporadic fatal insomnia; Handb Clin Neurol. 2018;153:271-299. doi: 10.1016/B978-0-444-63945-5.00015-5.
Pierluigi Gambetti, Qingzhong Kong, Wenquan Zou, Piero Parchi, Shu G Chen; Sporadic and familial CJD: classification and characterization; Br Med Bull. 2003; 66:213-39. doi: 10.1093/bmb/66.1.213.
Pasquale Montagna, Pierluigi Gambetti, Pietro Cortelli, Elio Lugaresi Familial and sporadic fatal insomnia;; Lancet Neurol. 2003 Mar;2(3):167-76. doi: 10.1016/s1474-4422(03)00323-5.
E Sforza, P Montagna, P Tinuper, P Cortelli, P Avoni, F Ferrillo, R Petersen, P Gambetti, E Lugaresi; Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation; Electroencephalogr Clin Neurophysiol. 1995 Jun;94(6):398-405. doi: 10.1016/0013-4694(94)00318-f.
S Ortega-Cubero, M R Luquín, I Domínguez, J Arbizu, I Pagola, M M Carmona-Abellán, M Riverol; Structural and functional neuroimaging in human prion diseases; Neurologia. 2013 Jun;28(5):299-308. doi: 10.1016/j.nrl.2011.03.012. Epub 2011 May 31.
S Klöppel, W Pirker, T Brücke, G G Kovács, G Almer; Beta-CIT SPECT demonstrates reduced availability of serotonin transporters in patients with Fatal Familial Insomnia; J Neural Transm (Vienna). 2002 Jul;109(7-8):1105-10. doi: 10.1007/s007020200093.
Pietro Cortelli, Daniela Perani, Pasquale Montagna, Roberto Gallassi, Paolo Tinuper, Federica Provini, Patrizia Avoni, Franco Ferrillo, Davide Anchisi, Rosa Maria Moresco, Ferruccio Fazio, Piero Parchi, Agostino Baruzzi, Elio Lugaresi, Pierluigi Gambetti; Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies; Brain. 2006 Mar;129(Pt 3):668-75. doi: 10.1093/brain/awl003. Epub 2006 Jan 6.
Maria Cramm, Matthias Schmitz, André Karch, Eva Mitrova, Franziska Kuhn, Bjoern Schroeder, Alex Raeber, Daniela Varges, Yong-Sun Kim, Katsuya Satoh, Steven Collins, Inga Zerr; Stability and Reproducibility Underscore Utility of RT-QuIC for Diagnosis of Creutzfeldt-Jakob Disease; Mol Neurobiol. 2016 Apr;53(3):1896-1904. doi: 10.1007/s12035-015-9133-2. Epub 2015 Apr 1.
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