NR AIPT
AU Mouillet-Richard,S.; Teil,C.; Lenne,M.; Hugon,S.; Taleb,O.; Laplanche,J.L.
TI Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease
QU Journal of the Neurological Sciences 1999 Oct 15; 168(2): 141-4
PT journal article
AB 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.
MH Amino Acid Substitution; Amyloid/*genetics; Case Report; Creutzfeldt-Jakob Syndrome/*genetics; DNA Mutational Analysis; Electroencephalography; Heterozygote Detection; Human; Male; Middle Age; Pedigree; Point Mutation; Polymorphism (Genetics); Protein Precursors/*genetics
AD Centre de Recherche C. Bernard, IFR 6, Service de Biochimie (Pr. J. -M. Launay), Hopital Lariboisiere, 2 rue A. Pare, 75475, Paris, France.
SP englisch
PO Niederlande