Various clinical presentations of familial prion disease

The various prion protein mutations and their associated phenotypes are given below:

• similar to sporadic CJD:
  • codon 178 (with valine at codon 129)
  • codons 200, 210, 232
  • codon 198 may give a CJD syndrome
  • insert mutations may give CJD or GSS
    
    
• slowly progressive dementia:
  • codon 145
    
    
• slowly progressive ataxia, upper motor neurone signs and dementia:
  • codon 102 is the common cause of GSS
  • insert mutations may give CJD or GSS
  • codon 117
    
    
• insomnia, dysautonomia and dementia:
  • codon 187 (with methionine at codon 129), the cause of FFI
    
    

Key:

• CJD = Creutzfeldt-Jacob disease
• GSS = Gerstmann-Straussler-Sheinker disease
• FFI = fatal familial insomnia

Reference:

• 1) Will, RG. "Prion related disorders". (1999) J. Roy. Col. Physicians. 33(4), 311-5