various clinical presentations of familial prion disease

Last reviewed 01/2018

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