1. Neuro‐Ophthalmological Findings in Early Fatal Familial Insomnia
- Author
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Eric R. Eggenberger, David S. Zee, Pietro Cortelli, Vincenzo Mastrangelo, Elena Merli, Janet C. Rucker, Mastrangelo V., Merli E., Rucker J.C., Eggenberger E.R., Zee D.S., and Cortelli P.
- Subjects
Adult ,Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Thalamus ,Eye Movement ,Video Recording ,Disease ,Diagnostic Techniques, Ophthalmological ,Prion Protein ,Insomnia, Fatal Familial ,03 medical and health sciences ,Saccadic intrusions ,0302 clinical medicine ,Retrospective Studie ,medicine ,In patient ,Age of Onset ,Thalamu ,Neurologic Examination ,Fatal familial insomnia ,business.industry ,Eye movement ,Motor disturbances ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Electrooculography ,030104 developmental biology ,Neurology ,Saccade ,Fixation (visual) ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Human - 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.
- Published
- 2021
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