A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.
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.
Koide
T
T
Department of Neurology, National Saigata Hospital, Niigata, Japan.
Ohtake
H
H
Nakajima
T
T
Furukawa
H
H
Sakai
K
K
Kamei
H
H
Makifuchi
T
T
Fukuhara
N
N
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
D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors