Fatal Familial and Sporadic Insomnia

Piero Parchi, Sabina Capellari, Pierluigi Gambetti

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Fatal familial insomnia is a prion disease characterized by severe sleep impairment and dysautonomia associated with severe thalamic atrophy with minimal or no spongiform degeneration. Genetically, Ffiis linked to aspartic acid to asparagine variation at codon 178 of the prion protein gene (D178N) coupled to the methionine codon 129 (D178N-129M) the site of a common methionine/valine polymorphism. Age at onset is variable but is on average 50 years and the disease duration is between 7 and 84 months, with shorter duration in cases that are methionine homozygous at codon 129 (average 11 months) and longer in patients that are methionine/valine heterozygous (23 months) although there is considerable overlap. Positron emission tomography with fluorodeoxyglucose can diagnose the disease in the presymptomatic phase. The sporadic form of fatal familial insomnia, sporadic fatal insomnia, has very similar clinical and histopathological phenotypes to those associated with fatal familial insomnia. Genetically, all cases of sporadic fatal insomnia reported to date are homozygous methionine at codon 129 of the prion protein gene. Both fatal familial insomnia and sporadic fatal insomnia are associated with a protease-resistant prion protein with the electrophoretic mobility of the protease-resistant prion protein type 2. Currently there is no effective treatment for fatal familial insomnia and sporadic fatal insomnia. Modeling of fatal familial insomnia has been attempted using transgenic mice.

Original languageEnglish
Title of host publicationNeurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition
PublisherWiley-Blackwell
Pages346-349
Number of pages4
ISBN (Print)9781405196932
DOIs
Publication statusPublished - Sep 21 2011

Keywords

  • Dysautonomia and sleep disturbances
  • Fatal familial insomnia and sFI
  • Fatal insomnia (FI), transmissible prion disease
  • Neuropsychological evaluation
  • Plasma catecholamines
  • Sporadic fatal insomnia
  • Thalamic atrophy
  • Thalamic atrophy of FFI

ASJC Scopus subject areas

  • Medicine(all)

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