Agrypnia excitata in fatal familial insomnia. A video-polygraphic study

Fatal familial insomnia (FFI) is a rare familial prion disease characterized by sleep and behavioral problems, autonomic alterations, ataxia, pyramidal signs, myoclonus, and mental deterioration. FFI has a fast evolution with death occurring a few months from symptom onset. The sleep problems are complex and are described as a disruption of the normal sleep–wake patterns with nocturnal insomnia and oneiric stupor in wakefulness (not fully awake and appearing somnolent).

Lugaresi et al. proposed that the sleep disorder in FFI be named “agrypnia excitata,” a peculiar subtype of the agrypnias (agrypnia = without sleep), organic insomnia, which is associated with generalized overactivity, mental oneirism, and motor and autonomic sympathetic activation being typical of but not specific for FFI. We here present a video-polygraphic study of a patient with confirmed FFI and agrypnia excitata.

The patient is a 49-year-old man with family history (the mother and a cousin) of FFI, confirmed in the cousin by genetic studies. He started complaining about behavioral changes and anxiety. After a few weeks, he developed memory problems, personality changes, and sleep difficulties. His family noted changes in personality and memory problems. Four months after the first symptoms, his wife reported that he was constantly moving and producing noises at night.

The physical exam did not demonstrate focal neurologic signs except bilateral hyperreflexia and reflex myoclonia; the palmomental reflex was bilaterally present. Neuropsychological testing demonstrated an alteration in attention and immediate memory, as well as a tendency to confabulation, while language was preserved. The laryngologic exam showed a bilateral paralysis of the laryngeal cords. Brain MRI was normal.

CITA DEL ARTÍCULO  Neurology. 2007 Aug 7;69(6):607-8