Fatal familial insomnia (FFI): investigations
Evidence-based neurology checklist on fatal familial insomnia (ffi): investigations: Genetics This is caused by mutations in the PRNP gene on chromosome 20 There is a GAC to AAC missense mutation on codon 178: asparagine to aspartic acid There is methionine at position 129 of the mutant allele The…
Genetics
- This is caused by mutations in the PRNP gene on chromosome 20
- There is a GAC to AAC missense mutation on codon 178: asparagine to aspartic acid
- There is methionine at position 129 of the mutant allele
- The transmission is autosomal dominant
Electroencephalogram (EEG): features
Cerebrospinal fluid (CSF) analysis
Polysomnography: features
Positron emission tomography (PET): features
Pathology
References
- Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003; 66:213-239.
- Krasnianski A, Bartl M, Juan PJS, et al. Fatal familial insomnia: clinical features and early identification. Ann Neurol 2008; 63:658-661.
- Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol 2010; 23:277-298.
- Wu LY, Zhan SQ, Huang ZY, et al. Expert consensus on clinical diagnostic criteria for fatal familial insomnia. Chin Med J (Engl) 2018; 131:1613-1617.
- Abu-Rumeileh S, Redaelli V, Baiardi S, et al. Sporadic fatal insomnia in Europe: phenotypic features and diagnostic challenges. Ann Neurol 2018; 84:347-360.
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