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
familial Creutzfeldt-Jacob disease