Neuro-Ophthalmological Findings in Early Fatal Familial Insomnia

Vincenzo Mastrangelo, Elena Merli, Janet C. Rucker, Eric R. Eggenberger, David S. Zee, Pietro Cortelli

Research output: Contribution to journalArticlepeer-review

Abstract

Fatal familial insomnia (FFI) is a rare inherited prion disease characterized by sleep, autonomic, and motor disturbances. Neuro-ophthalmological abnormalities have been reported at the onset of disease, although not further characterized. We analyzed video recordings of eye movements of 6 patients with FFI from 3 unrelated kindreds, seen within 6 months from the onset of illness. Excessive saccadic intrusions were the most prominent findings. In patients with severe insomnia, striking saccadic intrusions are an early diagnostic clue for FFI. The fact that the thalamus is the first structure affected in FFI also suggests its role in the control of steady fixation. ANN NEUROL 2021;89:823–827.

Original languageEnglish (US)
Pages (from-to)823-827
Number of pages5
JournalAnnals of neurology
Volume89
Issue number4
DOIs
StatePublished - Apr 2021

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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