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We report a 42-year-old man who,for 8 months,had intermittent motor abnormalities and mild difficulty falling asleep.A diagnosis of fatal familial insomnia(FFI)became evident over the next 6 months when he developed progressive insomnia,myoclonus,sympathetic hyperactivity,and dementia.The amyloid or prion protein(PrP)genotype showed features typically seen in FFI,with a 178Asn mutation and a 129Met polymorphism. There was also a deletion of one octapeptide repeat,suggesting that the association of 178Asn mutation with the 129Met polymorphism is not due to a"founder effect."Western immunoblot showed a trace of protease-resistant PrP in the thalamus-which had the most significant neuronal loss and gliosis-a moderate amount of PrP in the fronto-temporal ara,and no detectable protein elsewhere in the brain.Endocrine studies showed that a circadian modulation of hormonal levels could be maintained despite a near-total absence of sleep.Administration of gamma-hydroxybutrate induced a remarkable increase in slow-wave sleep. |
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