Article
Clinical and genetic studies of fatal familial insomnia.
Neurology - 1 Jun 1995
Reder A T, Mednick A S, Brown P, Spire J P, Van Cauter E, Wollmann R L, Cervenàkovà L, Goldfarb L G, Garay A, Ovsiew F
Abstract excerpt
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...
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