A case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation
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- Suzuki Kazunari
- Division of Geriatric Medicine, Nippon Medical School
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- Matsumura Noriaki
- Division of Geriatric Medicine, Nippon Medical School
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- Suzuki Tatsuya
- Division of Geriatric Medicine, Nippon Medical School
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- Nakano Hiroshi
- Division of Geriatric Medicine, Nippon Medical School
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- Nagayama Hiroshi
- Division of Neurology, Nippon Medical School
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- Yokoo Hideaki
- Division of Pathology, Gunma University
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- Tamura Koichi
- Division of Surgical Pathology, Tokyo Teisin Hospital
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- Katayama Yasuo
- Division of Neurology, Nippon Medical School
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- Sugisaki Yuichi
- Division of Surgical Pathology, Nihon Medical School Hospital
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- Oba Kenzo
- Division of Geriatric Medicine, Nippon Medical School
Bibliographic Information
- Other Title
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- プリオン蛋白遺伝子codon180の点変異とcodon129のMV多型を伴ったCreutzfeldt-Jakob病の1例
- 症例報告 プリオン蛋白遺伝子codon180の点変異とcodon129のMV多型を伴ったCreutzfeldt-Jakob病の1例
- ショウレイ ホウコク プリオン タンパク イデンシ codon 180 ノ テン ヘンイ ト codon 129 ノ MV タケイ オ トモナッタ Creutzfeldt Jakobビョウ ノ 1レイ
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Abstract
We report a 79-year-old Japanese man with histlogically-diagnosed Creutzfeldt-Jakob disease (CJD) with codon 129 polymorphism and codon 180 point mutation. At the time of the first examination, we diagnosed and treated as Alzheimer's disease with cerebrovascular disease because of laterality of cortex accumulation and an accumulation decrease of perforating branch areas at the SPECT (123I-IMP). His status rapidly progressed to an apallic state and died of lung abscess 12 months later. None of the members of his family had neuromuscular disorders. EEG (electroencephalogram) did not reveal periodic synchronous discharges (PSD). Prion protein gene analysis showed Codon 129 polymorphism (Met/Val) and codon 180 point mutation (Val/Ile).<br> The autopsy findings revealed spongiform changes and numerous senile plaque formation in the cerebral cortex. The hippocampus and the cerebellar cortex were well preserved and did not show lacunar infarctions. CJD patients with combination of the codon180 point mutation and codon 129 polymorphism of the PrP gene have rarely been reported.<br>
Journal
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- Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
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Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics 45 (1), 107-111, 2008
The Japan Geriatrics Society
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Details 詳細情報について
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- CRID
- 1390282680002011648
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- NII Article ID
- 130004485513
- 10021238634
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- NII Book ID
- AN00199010
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- NDL BIB ID
- 9377530
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- ISSN
- 03009173
- http://id.crossref.org/issn/03009173
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- Crossref
- CiNii Articles
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- Abstract License Flag
- Disallowed