Journal article
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene
Neurology, Vol.44(2), pp.299-301
1994
DOI: 10.1212/WNL.44.2.299
PMID: 7906019
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.
Details
- Title: Subtitle
- Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene
- Creators
- I INOUE - Kokura-kinen hosp., dep. neurology, Kitakyushu, JapanT KITAMOTO - Kokura-kinen hosp., dep. neurology, Kitakyushu, JapanK DOH-URA - Kokura-kinen hosp., dep. neurology, Kitakyushu, JapanH SHII - Kokura-kinen hosp., dep. neurology, Kitakyushu, JapanI GOTO - Kokura-kinen hosp., dep. neurology, Kitakyushu, JapanJ TATEISHI - Kokura-kinen hosp., dep. neurology, Kitakyushu, Japan
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.44(2), pp.299-301
- Publisher
- Lippincott Williams & Wilkins; Hagerstown, MD
- DOI
- 10.1212/WNL.44.2.299
- PMID
- 7906019
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 1994
- Academic Unit
- Iowa Neuroscience Institute; Anesthesia; Neuroscience and Pharmacology
- Record Identifier
- 9984071707402771
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