A point mutation at codon 210 of the prion protein gene (PRNP), resulting in the substitution of isoleucine for valine (V210I) has been found in a 54-year-old Moroccan patient affected with Creutzfeldt-Jakob disease (CJD). This patient is the first carrier of the PRNP V210I mutation reported from North 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 asymptomatic elderly carrier of the PRNP V210I mutation, suggesting an incomplete penetrance of the disease.
Pubmed ID: 10526198 RIS Download
Mesh terms: Amino Acid Substitution | Amyloid | Creutzfeldt-Jakob Syndrome | DNA Mutational Analysis | Electroencephalography | Heterozygote Detection | Humans | Male | Middle Aged | Pedigree | Point Mutation | Polymorphism, Genetic | Prion Proteins | Prions | Protein Precursors
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