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

doi:10.1212/wnl.44.2.299

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Article

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

Neurology - 1 Feb 1994

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

Abstract excerpt

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 sporad...

Topics

Adolescent
Adult
Cerebellum
Codon
Creutzfeldt-Jakob Syndrome
DNA
Deoxyribonucleases, Type II Site-Specific
Female
Genetic Variation
Humans
Immunohistochemistry
Japan
Lymphocytes
Lysine
Male
Middle Aged
Pedigree
Point Mutation

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