Fatal familial insomnia with a mutation at codon 178 of the priori protein gene: First report from Japan

Masao Nagayama, Yukito Shinohara, Hisako Furukawa, Tetsuyuki Kitamoto

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36 Citations (Scopus)

Abstract

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 cognitive impairments such as memory disturbance, delirium, and hallucinations, along with insomnia, dysautonomia, and myoclonus. This case implies a worldwide distribution of FFI and also highlights the need for more aggressive clinical application of genomic analysis of the PrP gene and polysomnographic study in patients with insomnia and cognitive impairments.

Original languageEnglish
Pages (from-to)1313-1316
Number of pages4
JournalNeurology
Volume47
Issue number5
DOIs
Publication statusPublished - 1996 Jan 1
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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