Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)669-670
Number of pages2
JournalNeurology
Volume42
Issue number3
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

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    Medori, R., Montagna, P., Tritschler, H. J., LeBlanc, A., Cortelli, P., Tinuper, P., Lugaresi, E., & Gambetti, P. (1992). Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178. Neurology, 42(3), 669-670.