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

160 Citations (Scopus)

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

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Fatal Familial Insomnia
Codon
Prions
Mutation
Primary Dysautonomias
Genes
Phenotype
Prion Diseases
Atrophy
Sleep
Genotype
Prion Proteins
Protein
Gene
Familial

ASJC Scopus subject areas

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

Cite this

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

Fatal familial insomnia : A second kindred with mutation of prion protein gene at codon 178. / Medori, R.; Montagna, P.; Tritschler, H. J.; LeBlanc, A.; Cortelli, P.; Tinuper, P.; Lugaresi, E.; Gambetti, P.

In: Neurology, Vol. 42, No. 3, 1992, p. 669-670.

Research output: Contribution to journalArticle

Medori, R, Montagna, P, Tritschler, HJ, 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, vol. 42, no. 3, pp. 669-670.
Medori, R. ; Montagna, P. ; Tritschler, H. J. ; LeBlanc, A. ; Cortelli, P. ; Tinuper, P. ; Lugaresi, E. ; Gambetti, P. / Fatal familial insomnia : A second kindred with mutation of prion protein gene at codon 178. In: Neurology. 1992 ; Vol. 42, No. 3. pp. 669-670.
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