NR AGQI
AU Koide,T.; Ohtake,H.; Nakajima,T.; Furukawa,H.; Sakai,K.; Kamei,H.; Makifuchi,T.; Fukuhara,N.
TI A patient with dementia with Lewy bodies and codon 232 mutation of PRNP
QU Neurology 2002 Nov 26; 59(10): 1619-21
PT journal article
AB 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.
MH Amino Acid Substitution/genetics; Amyloid/*genetics; Brain/pathology/radionuclide imaging; Case Report; Codon/genetics; Creutzfeldt-Jakob Syndrome/genetics/pathology; Human; Lewy Body Disease/*genetics/pathology/radionuclide imaging; Magnetic Resonance Imaging; Male; Middle Age; Point Mutation/*genetics; Protein Precursors/*genetics; Tomography, Emission-Computed, Single-Photon
AD Department of Neurology, National Saigata Hospital, Niigata, Japan.
SP englisch
PO USA