Fatal familial insomnia: Genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred

G. Rossi, G. Macchi, M. Porro, G. Giaccone, M. Bugiani, E. Scarpini, G. Scarlato, G. E. Molini, F. Sasanelli, O. Bugiani, Fabrizio Tagliavini

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Abstract

Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. The disease is characterized clinically by insomnia with disturbances of the autonomic, endocrine, and motor systems and neuropathologically by selective degeneration of the thalamus. Phenotypic variability is well known and has been linked to homozygosity or heterozygosity at PRNP codon 129. We report the clinical, neuropathologic, and biochemical findings and genomic analysis of a patient with FFI from a new Italian kindred. Although homozygous for methionine at codon 129, this patient showed some clinical and pathologic features most commonly found in heterozygotes.

Original languageEnglish
Pages (from-to)688-692
Number of pages5
JournalNeurology
Volume50
Issue number3
Publication statusPublished - Mar 1998

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Rossi, G., Macchi, G., Porro, M., Giaccone, G., Bugiani, M., Scarpini, E., Scarlato, G., Molini, G. E., Sasanelli, F., Bugiani, O., & Tagliavini, F. (1998). Fatal familial insomnia: Genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred. Neurology, 50(3), 688-692.