Jul 27, 2018

Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges

Annals of Neurology
Samir Abu-RumeilehPiero Parchi

Abstract

Comprehensively describe the phenotypic spectrum of sporadic fatal insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. 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. 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...Continue Reading

  • References41
  • Citations2

References

  • References41
  • Citations2

Citations

Mentioned in this Paper

NEFL
Health Center
In Vivo
New Variant Creutzfeldt-Jakob Disease
Neurofilament
Electroencephalography
Magnetic Resonance Imaging
Positron-Emission Tomography
Granulocyte Colony-Stimulating Factor
FDG-Positron Emission Tomography

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