歯状核赤核淡蒼球ルイ体萎縮症
WordNet
- move over something with pressure; "rub my hands"; "rub oil into her skin"
- the act of rubbing or wiping; "he gave the hood a quick rub" (同)wipe
- cause friction; "my sweater scratches" (同)fray, fret, chafe, scratch
- scrape or rub as if to relieve itching; "Dont scratch your insect bites!" (同)scratch, itch
- a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
- undergo atrophy; "Muscles that are not used will atrophy"
- any weakening or degeneration (especially through lack of use) (同)withering
PrepTutorEJDIC
- 〈物の表面など〉‘を'『こする』,さする / (…に)…‘を'こすりつける《+名+『against(on, over)』+名》;(…に)…‘を'すりこむ《+『名』+『in』(『into, on』)+『名』》 / 〈二つの物〉‘を'こすり合わせる《+『名』+『together,』+『together』+『名』》 / ‥‘を'こすり落とす《+『名』+『away』(『off』)『,』+『away』(『off』)+『名』》 / …‘を'すりむく,ひりひりさせる / (…の表面を)『こする』,すれる《+『against』(『on』)+『名』》;〈二つの物が〉こすれ合う《+『together』》 / 《単数形で》こすること / 当てこすり / 《the rub》やっかいな事,困難
- (栄養不良などによる)萎縮(いしゅく) / (一般的に)衰退,退化 / 萎縮する,衰退する / …'を'萎縮させる,衰退させる
- (顔・肌などが)青白い,生色のない(pale)
UpToDate Contents
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English Journal
- Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
- Yapijakis C, Gatzonis S, Youroukos S, Kollia V, Karachristianou S, Anagnostouli M.
- In vivo (Athens, Greece). ;28(6)1193-6.
- Juvenile myoclonic epilepsy (JME), is an early-onset inherited generalized epilepsy which displays genetic heterogeneity, with at least 10 known loci. Another neurogenetic disease, dentato-rubro-pallido-luysian atrophy (DRPLA) presents three clinical phenotypes, one of which in Japanese displays man
- PMID 25398822
- Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy.
- Nihei Y, Ito D, Okada Y, Akamatsu W, Yagi T, Yoshizaki T, Okano H, Suzuki N.
- The Journal of biological chemistry. 2013 Mar;288(12)8043-52.
- Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor (AR) gene. Ligand-dependent nuclear accumulation of mutant AR protein is a critical characteristic of the pathogenesis of SBMA. SBMA has been modeled in AR-overexpr
- PMID 23364790
- Absence seizures with myoclonic seizures as an early manifestation of dentato-rubro-pallido-luysian atrophy (DRPLA): a follow-up clinical course of twelve years.
- Sudo K, Hata D, Yokoyama N, Kawashima J, Yabe I, Tajima Y, Matsumoto A, Tashiro K.
- Acta neurologica Belgica. 2010 Mar;110(1)84-8.
- Typical absence seizures and isolated myoclonic seizures are both classified as age-related generalized seizures and are considered to be benign neurological manifestations. Concomitance of the two types of seizure is considered benign if it does not accompany other types of seizures or other neurol
- PMID 20514931
Japanese Journal
- 異なる臨床型を呈した歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の親子例 : 遺伝子変異と臨床型の検討(神経内科学教室竹宮敏子教授退任記念特別号)
- 宮崎 一秀,飯嶋 睦,柴田 興一,内山 真一郎,竹宮 敏子,岩田 誠
- 東京女子医科大学雑誌 70(臨時増刊号2), E372-E375, 2000-12-30
- NAID 110007526913
- 橋口 修二,小笠原 望,峯 秀樹,山本 明,沼田 明,荻野 哲朗
- 臨床神経学 40(4), 388-392, 2000-04-01
- NAID 10008309225
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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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