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Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges
Open accessAbstract
Objective: Comprehensively describe the phenotypic spectrum of sporadic fatal insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. Methods: A survey among major prion disease reference centers in Europe identified 13 patients diagnosed with sFI in the past 20 years. We undertook a detailed analysis of clinical and histopathological features and the results of diagnostic investigations. Results: Mean age at onset was 43 years, and mean disease duration 30 months. Early clinical findings included psychiatric, sleep, and oculomotor disturbances, followed by cognitive decline and postural instability. In all tested patients, video‐polysomnography demonstrated a severe reduction of total sleep time and/or a disorganized sleep. Cerebrospinal fluid (CSF) levels of proteins 14‐3‐3 and t‐tau were unrevealing, the concentration of neurofilament light protein (NfL) was more consistently increased, and the real‐time quaking‐induced conversion assay (RT‐QuIC) revealed a positive prion seeding activity in 60% of cases. Electroencephalography and magnetic resonance imaging showed nonspecific findings, whereas fluorodeoxyglucose positron emission tomography (FDG‐PET) demonstrated a profound bilateral thalamic hypometabolism in 71% of cases. Molecular analyses revealed PrP Sc type 2 and methionine homozygosity at PRNP codon 129 in all cases. Interpretation: sFI is a disease of young or middle‐aged adults, which is difficult to reconcile with the hypothesis of a spontaneous etiology related to stochastic, age‐related PrP misfolding. The combination of psychiatric and/or sleep‐related symptoms with oculomotor abnormalities represents an early peculiar clinical feature of sFI to be valued in the differential diagnosis. Video‐polysomnography, FDG‐PET, and especially CSF prion RT‐QuIC and NfL constitute the most promising supportive diagnostic tests in vivo. Ann Neurol 2018;84:347–360
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Metadata
- Authors
- Abu‐Rumeileh, S., Redaelli, V., Baiardi, S., Mackenzie, G., Windl, O., Ritchie, D. L., Didato, G., Hernandez‐Vara, J., Rossi, M., Capellari, S., Imperiale, D., Rizzone, M. G., Belotti, A., Sorbi, S., Rozemuller, A. J. M., Cortelli, P., Gelpi, E., Will, R. G., Zerr, I., Giaccone, G., & Parchi, P.
- Affiliations
- University of Bologna (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Western General Hospital (GB)
- Institut für Neuropathologie (DE)
- Neurology Service Vall D'Hebron University Hospital Barcelona Spain
- IRCCS Institute of Neurological Sciences of Bologna Bologna Italy
- Ospedale Maria Vittoria (IT)
- University of Turin (IT)
- University of Milan (IT)
- University of Florence (IT)
- Department of Pathology University Medical Center Utrecht the Netherlands
- Neurological Tissue Bank of the Biobanc, ‐ Hospital Clínic ‐ Institut d'Investigacions Biomédiques August Pi i Sunyer Biomedical Research Institute Barcelona Spain
- Universitätsmedizin Göttingen (DE)
- Corresponding author
- Parchi, Piero
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2018-08-31
- Volume
- 84
- Issue
- 3
- Pages
- 347-360
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2884080165
- Cited by
- 66
- References
- 50
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 9 · 2023: 26 · 2022: 5 · 2021: 8 · 2020: 2 · 2019: 6 · 2018: 1
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Florence Research (University of Florence) (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) (submittedVersion, cc-by)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Health Sciences › Medicine › Internal Medicine › Amyloidosis: Diagnosis, Treatment, Outcomes
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- prion disease, phenotypic spectrum, sleep disorders, eye movement disorders, neurofilament light chain, RT-QuIC, thalamic hypometabolism, FDG-PET, differential diagnosis
- MeSH terms
- Adult, Aged, 80 and over, Diagnosis, Differential, Electroencephalography, Europe, Female, Humans, Sleep Initiation and Maintenance Disorders, Creutzfeldt-Jakob Syndrome, Male, Middle Aged, Phenotype, Prion Diseases, Age of Onset
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