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PMID: 7906019 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

Neurology ·Vol. 44 ·No. 2 ·1994-02-00 ·Pages 299-301

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

Abstract

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.

MeSH Terms

Adolescent Adult Cerebellum/metabolism,pathology Codon Creutzfeldt-Jakob Syndrome/genetics,pathology DNA/blood Deoxyribonucleases, Type II Site-Specific Female Genetic Variation Humans Immunohistochemistry Japan Lymphocytes/metabolism Lysine Male Middle Aged Pedigree Point Mutation Polymerase Chain Reaction PrPSc Proteins Prions/analysis,genetics

Chemicals

Codon PrPSc Proteins Prions DNA endodeoxyribonuclease BsmAI Deoxyribonucleases, Type II Site-Specific Lysine

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Inoue I

Department of Neurology, Kokura-kinen Hospital, Kitakyusyu, Japan.

Kitamoto T

Doh-ura K

Shii H

Goto I

Tateishi J

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

0028-3878

DOI

10.1212/wnl.44.2.299

Published

1994-02-00

Pages

299-301

Language

English

Region

United States

NLM ID

0401060

Subset

External Links

PubMed source DOI: 10.1212/wnl.44.2.299 View journal details

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

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