NR AJWX
AU Reder,A.T.; Mednick,A.S.; Brown,P.; Spire,J.P.; van Cauter,E.; Wollmann,R.L.; Cervenakova,L.; Goldfarb,L.G.; Garay,A.; Ovsiew,F.; Gajdusek,D.C.; Roos,R.P.
TI Clinical and genetic studies of fatal familial insomnia
QU Neurology 1995 Jun; 45(6): 1068-75
PT journal article
AB 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 "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 area, 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-hydroxybutyrate induced a remarkable increase in slow-wave sleep.
MH Adult; Case Report; Cerebral Cortex/metabolism/pathology; Fatal Outcome; Hormones/metabolism; Human; Male; Mutation; Prions/genetics; Sleep Initiation and Maintenance; Disorders/*genetics/metabolism/pathology/therapy
AD Department of Neurology, University of Chicago School of Medicine, IL, USA
SP englisch
PO USA
EA HTML-Version und pdf-Datei
OR Prion-Krankheiten 7