Mutation at codon 210 (V210I) of the prion protein gene in a North Africanpatient with Creutzfeldt-Jakob disease

A Point mutation at codon 210 of the prion protein gene (PRNP). resulting i n the substitution of isoleucine for valine (V210I) has been found in a 54- year-old Moroccan patient affected with Creutzfeldt-Jakob disease (CJD). Th is patient is the first carrier of the PRNP V210I mutation reported from No rth Africa. The clinical presentation of the patient was rather similar to that seen in classical CJD, except that unusual early sensory symptoms were observed. The mother of the proband. aged 72, is a further example of an a symptomatic elderly carrier of the PRNP V210I mutation, suggesting an incom plete penetrance of the disease. (C) 1999 Elsevier Science B.V. All rights reserved.