Fatal familial insomnia

A second kindred with mutation of prion protein gene at codon 178

Medori, R. MD
Montagna, P. MD
Tritschler, H. J. PhD
LeBlanc, A. PhD
Cortelli, P. MD
Tinuper, P. MD
Lugaresi, E. MD
Gambetti, P. MD

Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH (Drs. Medori, Tritschler, LeBlanc, and Gambetti)
Clinica Neurologies dell Università di Bologna, Bologna, Italy (Drs. Medori, Montagna, Tritschler, Cortelli, Tinuper, and Lugaresi).

Address correspondence and reprint requests to Dr. P. Gambetti, University Hospitals of Cleveland, 2074 Abington Road, Cleveland, OH 44106.

Supported by NINCDS NS 14509–13, NIA ADRC AG-08012–02, NIH NIA 1 R01 AGNS080155–02, and the Britton Fund.

Received December 2, 1991. Accepted for publication in final form December 3, 1991.

Neurology 42(3):p 669-670, March 1992.

Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC→C mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC→C mutation at codon 178 of the prion gene.