Fatal familial insomnia
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Medpedia on Fatal familial insomnia (Less technical, good quality control)
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Fatal familial insomnia (FFI) is a form of prion disease associated with a mutation of PRNP178 and methionine triplet at P129. Although spontaneous mutations of the gene on chromosome 20 are possible, it is characteristically familial with a poor prognosis once neurological manifestations occur in typically middle adult life. It was first described in 1986 and is characterised by[1]:
- Autosomal-dominant
- Disturbances in:
- Sleep-wake cycle (Agrypnia excitata) thus differential diagnosis includes[2]:
- Vigilance
- Autonomic hyperactivity
- With:
- Myoclonus
- Cognitive impairment
Genetic tests are diagnostic, but routine cranial MRI, EEGs, CSF examination tend to be normal. It has been reported that specifically due to the characteristic thalamic gliosis, MRI diffusion coefficient of water in the thalamus is abnormal[3].
- Histology:
- Low grade prion protein deposition typically hippocampus & thalamus
- Thalamic gliosis
- Spongiform changes especially hippocampus
References
- ↑ Lugaresi E, Provini F. Fatal familial insomnia and agrypnia excitata. Reviews in neurological diseases. 2007; 4(3):145-52.
- ↑ Provini F, Cortelli P, Montagna P, Gambetti P, Lugaresi E. Fatal insomnia and agrypnia excitata: Sleep and the limbic system. Revue neurologique. 2008 Sep; 164(8-9):692-700.(Link to article – subscription may be required.)
- ↑ Haïk S, Galanaud D, Linguraru MG, Peoc'h K, Privat N, Faucheux BA, Ayache N, Hauw JJ, Dormont D, Brandel JP. In vivo detection of thalamic gliosis: a pathoradiologic demonstration in familial fatal insomnia. Archives of neurology. 2008 Apr; 65(4):545-9.(Link to article – subscription may be required.)
