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NEUROLOGY 1994;44:299
© 1994 American Academy of Neurology

Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene

I. Inoue, MD, T. Kitamoto, MD, K. Doh-ura, MD, H. Shii, MD, I. Goto, MD and J. Tateishi, MD

Department of Neurology (Drs. Inoue and Shii), Kokura-kinen Hospital, Kitakyusyu, and the Departments of Neurology (Drs. Inoue and Goto) and Neuropathology (Drs. Kitamoto, Doh-ura, and Tateishi), Neurological Institute, Faculty of Medicine, Kyusyu University, Fukuoka, Japan.

We report the first Japanese case of familial Creutzfeldt-Jakob disease (CJD) with the heterozygous point mutation at codon 200 of the prion protein gene. This suggests that the mutation is not race-specific. The clinical and pathologic features of this case are not different from those of sporadic CJD without point mutations. Some healthy members of the family also carry the same mutation in the autosomal dominant inheritance expression.

Address correspondence and reprint requests to Dr. Isao Inoue, Department of Neurology, Neurological Institute, Faculty of Medicine, Kyusyu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812, Japan.

Supported by the Ministry of Health and Welfare of Japan.

Received February 19, 1993. Accepted for publication in final form August 10, 1993.




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