What is Fatal Familial Insomnia?

Fatal familial insomnia (FFI) is a rare genetically linked autosomal dominant prion disease found in around 40 families in the world. FFI is characterised by disturbances and subsequent alterations in the sleep-wake cycle, causing abnormal functioning of the autonomic nervous system and motor skills of the patient (Cortelli et al. 2006).

FFI is known to be genetically inherited and is linked to a mutation at codon 178 of the prion protein gene PRNP (Cortelli et al. 2006). This variation of the protein caused by the different conformational shape has the potential to be highly pathogenic and in the case of FFI causing the systematic destruction of neurons within the brain particularly in the thalamus.

This documentary on FFI illustrates the complex nature of the disease, its origins and the genetic heritability of the disease which makes it of great concern to the medical bodies.

The Origins of FFI

The origins of FFI date back to the 18th century in Italy, where researchers believe that a wealthy venetican man is said to have been the first person to carry the gene mutation. Known as patient 0, it is believed that he trans-ferred the mutation, and the disease to his children, starting the cycle of FFI.

Multimedia Sources:

The picture presented on this page was obtained from the following electronic source: http://nobelprize.org/nobel_prizes/medicine/laureates/1997/press.html

The video presented on this page was obtained from the following electronic source: http://www.youtube.com/watch?v=nIeTVVAEFn8

Reference: Background Information on FFI

Cortelli, P, Perani, D, Montagna, P, Gallassi, R, Tinuper, P, Provini, F, Avoni, P, Ferrillo, F, Anchisi, D, Moresco, R.M, Fazio, F, Parchi, P, Baruzzi, A, Lugaresi, E and Gambetti, P 2006, ‘Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and FDG-PET studies’, Brain, vol. 129, pp. 668-675, viewed 13 August 2009 from CINAHL database.