R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

The R208H substitution of the prion protein gene (PRNP) was first reported in 1996 in a subject with pathologically confirmed Creutzfeldt-Jakob disease (CJD) [1] and subsequently described in only five other patients [2–6]. Now we report a case with CJD and the rarely reported haplotype R208H-129VV, showing some distinctive clinical features and expanding the spectrum of phenotypes associated with R208H mutation