title: Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities.
abstract: Genetic transmissible spongiform encephalopathies (TSEs) account for approximately 10-15% of overall human prion diseases worldwide, but genotype-phenotype correlations remain incomplete. Here we report the case of an 80-year-old man who developed rapidly progressive behavioral abnormalities and myoclonus following a stroke. Repeated electroencephalography (EEG) revealed a general slowing of the basic activity, as well as several episodes of triphasic waves, with neither periodic activity nor recorded seizure. 14.3.3 protein was detected in cerebral cerebrospinal fluid, and direct sequencing of the PRNP gene showed an E196K mutation associated with homozygosity for methionine at codon 129. The patient was diagnosed with probable genetic prion disease with a Creutzfeldt-Jakob disease-like phenotype. The PRNP E196K mutation has only rarely been described in the literature, and generally patients exhibited an atypical initial phenotype, mainly involving abnormal behavioral features. Further observations are needed to confirm this particular clinical pattern associated with the mutation.
authors.affiliation: Department of Neurology, University Hospital of Dijon, 3 Rue du Faubourg Raines, 21000 Dijon, France. ybejot@yahoo.fr <ybejot@yahoo.fr>
authors.forename: Yannick
authors.initials: Y
authors.lastname: Béjot
authors.forename: Guy-Victor
authors.initials: GV
authors.lastname: Osseby
authors.forename: Marie
authors.initials: M
authors.lastname: Caillier
authors.forename: Thibault
authors.initials: T
authors.lastname: Moreau
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Laplanche
authors.forename: Maurice
authors.initials: M
authors.lastname: Giroud
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D004569:Electroencephalography; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008715:Methionine / Q000235:genetics*; D009154:Mutation; D009207:Myoclonus / Q000235:genetics / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: D048948:14-3-3 Proteins; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D008715:Methionine