早期発症型家族性アルツハイマー病の原因遺伝子S182(Presenilin‐1)のmutation analysisとbiological functionについて
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- 池田 将樹
- 群馬大学医学部神経内科
書誌事項
- タイトル別名
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- Mutation Analysis of S182 (Presenilin-1) in Patients with Familial Alzheimer's Disease and its Biological Function.
- ソウキ ハッショウガタ カゾクセイ アルツハイマービョウ ノ ゲンイン イデン
この論文をさがす
抄録
We report the clinical and neuropathologic phenotypes associated with two missence mutations in the presenilin I (PS I) gene in Japanese patients with early-onset familial Alzheimer's disease. The AM/JPN1 family showed a missense mutation (C→T) which is predicted to cause an Alanine to Valine missense substitution at codon 260 (A260V). The disease in the members of this family had a mean age-of-onset of 40.3 years old (the range of disease is 8-19 years). Neuropathologic studies of two members of AM/JPN1 pedigree showed wide-spread senile plaques, neurofibrillary tangles, and neuronal loss, as well abundant perivascular subpial amyloid deposits in the Virchow-Robin spaces and Pick-like intraneuronal inclusions in the dentate gyrus. In the second pedigree transmitting a C→T nucleotide substitution leading to the missense mutation of Alanine to Valine at colon 285 (A285V), the disease had a later age of onset (mean, 51 years) but a more rapid course. Comparison of the disease phenotypes associated with other missense mutations in exon 9 of PSI reveals no obvious clinical or pathological phenotype that uniquely distingguishes Alzheimer's disease associated with PS I mutations from other early-onset familial Alzheimer's disease. This implas that the variable phenotypes of familial Alzheimer's, disease might be aftribatable to factors other than the PS gene.
収録刊行物
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- 日本老年医学会雑誌
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日本老年医学会雑誌 35 (4), 285-289, 1998
一般社団法人 日本老年医学会
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詳細情報 詳細情報について
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- CRID
- 1390001205020430208
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- NII論文ID
- 130003652419
- 10008481807
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- NII書誌ID
- AN00199010
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- NDL書誌ID
- 4482634
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- ISSN
- 03009173
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- PubMed
- 9643011
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可