Fatal Familial Insomnia: a video-polysomnographic case report

Fatal familial insomnia (FFI) is a rare neurodegenerative hereditary autosomal dominant prion disease that affects patients between the fifth and sixth decades, with a rapid fatal outcome [1, 2]. It is caused by a missense mutation at codon 178 (p.D178N) of the prion protein gene (PRNP) [3]. Clinical hallmarks of the disease are sleep disturbances, motor disorders, dysautonomia and dementia [1]. Pathology includes a typical prominent thalamo-olivaric involvement [4]. Here, we report a video-documented polysomnography (PSG) of a 49-year-old woman with molecularly proven FFI.

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