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.

Keyphrases

middle aged
sleep quality
pet ct
positron emission tomography
pet imaging
computed tomography
machine learning
obstructive sleep apnea
mental health
physical activity
deep learning
sleep apnea
neural network
platelet rich plasma
drug induced
cerebrospinal fluid