Neuro‐Ophthalmological Findings in Early Fatal Familial Insomnia
| Autor: | Eric R. Eggenberger, David S. Zee, Pietro Cortelli, Vincenzo Mastrangelo, Elena Merli, Janet C. Rucker |
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| Přispěvatelé: | Mastrangelo V., Merli E., Rucker J.C., Eggenberger E.R., Zee D.S., Cortelli P. |
| Rok vydání: | 2021 |
| Předmět: |
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 |
| Zdroj: | Annals of Neurology. 89:823-827 |
| ISSN: | 1531-8249 0364-5134 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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