Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Apr;17(4):30.
doi: 10.1007/s11910-017-0743-0.

Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

Affiliations
Review

Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations

Franc Llorens et al. Curr Neurol Neurosci Rep. .

Abstract

Purpose of review: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression. This article reviews recent research on the clinical and molecular aspects of the disease.

Recent findings: New clinical and biomarker tools have been implemented in order to assist in the diagnosis of the disease. In addition, the generation of mouse models, the availability of 'omics' data in brain tissue and the use of new seeding techniques shed light on the molecular events in FFI pathogenesis. Biochemical studies in human samples also reveal that neuropathological alterations in vulnerable brain regions underlie severe impairment in key cellular processes such as mitochondrial and protein synthesis machinery. Although the development of a therapy is still a major challenge, recent findings represent a step toward understanding of the clinical and molecular aspects of FFI.

Keywords: Fatal familial insomnia; Hereditary prion disease; Neurodegenerative diseases; Prion protein; Thalamus.

Similar articles

See all similar articles

Cited by 3 articles

References

    1. Sleep Med Rev. 2001 Aug;5(4):313-322 - PubMed
    1. Arch Neurol. 2008 Apr;65(4):545-9 - PubMed
    1. Eur J Nucl Med Mol Imaging. 2015 Sep;42(10 ):1522-9 - PubMed
    1. Cell Biochem Biophys. 2013;67(3):1307-18 - PubMed
    1. Lancet Neurol. 2003 Mar;2(3):167-76 - PubMed

LinkOut - more resources

Feedback