エントリ 名称 歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA)
上位グループ 概要 Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia in patients with a later onset (> 40 years).
カテゴリ 神経変性疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 ATN1 (CAG repeat expansion) [HSA:
1822 ] [KO:
K05626 ]
コメント Disease class: polyglutamine disease
リンク 文献 著者 Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G
タイトル Molecular genetics and biomarkers of polyglutamine diseases.
雑誌 文献 著者 Rudnicki DD, Margolis RL.
タイトル Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.
雑誌 文献 著者 Nucifora FC Jr, Ellerby LM, Wellington CL, Wood JD, Herring WJ, Sawa A, Hayden MR, Dawson VL, Dawson TM, Ross CA
タイトル Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity.
雑誌 文献 著者 Schilling G, Wood JD, Duan K, Slunt HH, Gonzales V, Yamada M, Cooper JK, Margolis RL, Jenkins NA, Copeland NG, Takahashi H, Tsuji S, Price DL, Borchelt DR, Ross CA
タイトル Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.
雑誌 文献 著者 Kanazawa I
タイトル Molecular pathology of dentatorubral-pallidoluysian atrophy.
雑誌 文献 著者 Ross CA, Wood JD, Schilling G, Peters MF, Nucifora FC Jr, Cooper JK, Sharp AH, Margolis RL, Borchelt DR
タイトル Polyglutamine pathogenesis.
雑誌 文献 著者 Kanazawa I
タイトル Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.
雑誌 LinkDB All DBs
