A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.
Neurology
; 59(10): 1619-21, 2002 Nov 26.
Article
in En
| MEDLINE
| ID: mdl-12451207
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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Protein Precursors
/
Point Mutation
/
Lewy Body Disease
/
Amyloid
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Neurology
Year:
2002
Type:
Article
Affiliation country:
Japan