PRION DISEASE-ASSOCIATED WITH A NOVEL 9 OCTAPEPTIDE REPEAT INSERTION IN THE PRNP GENE

Some cases of spongiform encephalopathies are linked to mutations with in the prion protein gene (PRNP). Repetitive octapeptide insertions of variable length in the PRNP gene are also associated with spongiform encephalopathies, mostly familial Creutzfeldt-Jakob disease (CTD). In this study we report on a novel insertion mutation comprising nine ext ra octapeptide repeats between codons 51 and 91 of the PRNP gene. The affected patient showed a slowly progressive dementia of at least 6 ye ars duration and ataxia.