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Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges.

Samir Abu-RumeilehVeronica RedaelliSimone BaiardiGraeme MackenzieOtto WindlDiane L RitchieGiuseppe DidatoJorge Hernandez-VaraMarcello RossiSabina CapellariDaniele ImperialeMario Giorgio RizzoneAlessia BelottiSandro SorbiAnnemieke J M RozemullerPietro CortelliEllen GelpiRobert G WillInga ZerrGiorgio GiacconePiero Parchi
Published in: Annals of neurology (2018)
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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