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Neurology 2002;59:1619-1621
© 2002 American Academy of Neurology
Brief Communications

A patient with dementia with Lewy bodies and codon 232 mutation of PRNP

T. Koide, MD PhD, H. Ohtake, MD, T. Nakajima, MD PhD, H. Furukawa, MD PhD, K. Sakai, MD, H. Kamei, MD, T. Makifuchi, MD PhD and N. Fukuhara, MD PhD

Department of Neurology (Drs. Koide, Ohtake, Nakajima, Sakai, Kamei, and Fukuhara) and Department of Neuropathology (Dr. Makifuchi), National Saigata Hospital; Department of Clinical Pharmacology, Faculty of Pharmaceutical Sciences (Dr. Furukawa), Fukuoka University, Japan.

Address correspondence and reprint requests to Dr. N. Fukuhara, National Saigata Hospital, 468-1, Saigata, Ogata-machi, Nakakubiki-gun Niigata, 949-3193, Japan; e-mail: fukuhara{at}saigata-nh.go.jp

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.




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