歯状核赤核淡蒼球ルイ体萎縮症
WordNet
- an impairment of health or a condition of abnormal functioning
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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English Journal
- Recent trends in neuroendovascular therapy in Japan: analysis of a nationwide survey--Japanese Registry of Neuroendovascular Therapy (JR-NET) 1 and 2.
- Sakai N1, Yoshimura S, Taki W, Hyodo A, Miyachi S, Nagai Y, Sakai C, Satow T, Terada T, Ezura M, Hyogo T, Matsubara S, Hayashi K, Fujinaka T, Ito Y, Kobayashi S, Komiyama M, Kuwayama N, Matsumaru Y, Matsumoto Y, Murayama Y, Nakahara I, Nemoto S, Satoh K, Sugiu K, Ishii A, Imamura H; Japanese Registry of Neuroendovascular Therapy Investigators.
- Neurologia medico-chirurgica.Neurol Med Chir (Tokyo).2014;54(1):1-8. Epub 2013 Dec 27.
- The present study retrospectively analyzed the database of the Japanese Registry of Neuroendovascular Therapy 1 and 2 (JR-NET1&2) to determine annual trends, including adverse events and clinical outcomes at 30 days after undergoing neuroendovascular therapy. JR-NET1&2 are surveys that targe
- PMID 24390188
- MDR1 C3435T polymorphism and interaction with environmental factors in risk of Parkinson's disease: a case-control study in Japan.
- Kiyohara C1, Miyake Y, Koyanagi M, Fujimoto T, Shirasawa S, Tanaka K, Fukushima W, Sasaki S, Tsuboi Y, Yamada T, Oeda T, Shimada H, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M; Fukuoka Kinki Parkinson's Disease Study Group.
- Drug metabolism and pharmacokinetics.Drug Metab Pharmacokinet.2013;28(2):138-43. Epub 2012 Sep 11.
- It has been suggested that P-glycoprotein (P-gp), the product of multidrug resistance 1 (MDR1) gene, regulates the brain entry of various xenobiotics. Impaired function of P-gp may be associated with an increased risk of Parkinson's disease (PD). The aim of this study was to investigate the impact o
- PMID 22971641
- APOE and CYP2E1 polymorphisms, alcohol consumption, and Parkinson's disease in a Japanese population.
- Kiyohara C1, Miyake Y, Koyanagi M, Fujimoto T, Shirasawa S, Tanaka K, Fukushima W, Sasaki S, Tsuboi Y, Yamada T, Oeda T, Miki T, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M; Fukuoka Kinki Parkinson’s Disease Study Group.
- Journal of neural transmission (Vienna, Austria : 1996).J Neural Transm.2011 Sep;118(9):1335-44. doi: 10.1007/s00702-011-0612-y. Epub 2011 Mar 1.
- Apolipoprotein E (APOE) is associated with increased oxidative stress, which is caused by reactive oxygen species (ROS). Enhanced cytochrome P450 2E1 (CYP2E1) activity may also increase formation of neurotoxins such as ROS. As Parkinson's disease (PD) is a neurodegenerative disorder, both the APOE a
- PMID 21360299
Related Links
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- CHANGES IN MYOCARDIAL PERFUSION AFTER A-C BYPASS IN PATIENTS WITH KAWASAKI DISEASE ASSESSED BY THALLIUM-201 MYOCARDIAL IMAGING : Infective Endocarditis : PROCEEDINGS OF THE 50th ANNUAL ...
★リンクテーブル★
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- 英
- dentatorubral-pallidoluysian atrophy DRPLA, dentatorubropallidoluysian atrophy, dentato-rubro-pallido-luysian atrophy
- 同
- 歯状核赤核淡蒼球ルイ体萎縮, 内藤・小柳病 Naito-Koyanagi disease
- 関
- 進行性ミオクローヌスてんかん、トリプレットリピート病。脊髄小脳変性症
概念
- 遺伝性脊髄小脳変性症のうち常染色体優性遺伝型小脳失調症が9割を占めており、その中に含まれている疾患である。
疫学
病因
- 第12染色体短腕の遺伝子Atrophin1遺伝子における、コード配列上のCAG repeatの増加
遺伝形式
病理
病態
- CAGリピートが長い場合、若年発症し、進行性ミオクローヌスてんかんを呈する。
- CAGリピートが短い場合、成人発症し、認知機能障害、不随意運動を呈する。
参考
- 1. DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA - OMIM
- http://omim.org/entry/125370
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- 疾患:illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
- 特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
- something that is very wrong with people's attitudes, way of life or with society.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder