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Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan.

Neurology - 1 Nov 1996

Nagayama M, Shinohara Y, Furukawa H, Kitamoto T

Abstract excerpt

Fatal familial insomnia (FFI), or familial selective thalamic degeneration with a mutation at codon 178 of the prion protein (PrP) gene, is a rapidly progressive autosomal dominant disease characterized by progressive insomnia, dysautonomia, and myoclonus. We report here the clinical and postmortem findings as well as genomic analysis in a first non-Western case with FFI. This patient also clinically had...

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PMID: 8909448
DOI: 10.1212/wnl.47.5.1313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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