title: A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.
abstract: The authors describe a patient who had a point mutation at codon 232 of the prion protein gene, resulting in the substitution of methionine for arginine (M232R). The patient developed dementia and died 6 years after its onset. Autopsy revealed dementia with Lewy bodies, not Creutzfeldt-Jakob disease. Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease.
authors.affiliation: Department of Neurology, National Saigata Hospital, Niigata, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Koide
authors.forename: H
authors.initials: H
authors.lastname: Ohtake
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: H
authors.initials: H
authors.lastname: Furukawa
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: H
authors.initials: H
authors.lastname: Kamei
authors.forename: T
authors.initials: T
authors.lastname: Makifuchi
authors.forename: N
authors.initials: N
authors.lastname: Fukuhara
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D000682:Amyloid / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003062:Codon / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D020961:Lewy Body Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors