| H00060 | |
| H番号 | H00060 |
| 名称 | 歯状核赤核淡蒼球ルイ体萎縮症 (DRPLA) |
| 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 |
| ネットワーク | - |
| 病因遺伝子 | ATN1; atrophin 1 (CAG repeat expansion) [HSA:1822] [KO:K05626] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disease class: polyglutamine disease Affected region: cerebellum, cerebral cortex, basal ganglia, Luys body Microscopic lesion: neuronal and glial intranuclear inclusions |
| リンク | ICD-11: 8A01.12 ICD-10: G11.2 OMIM: 125370 |
| 文献 | PMID:18473821 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 Curr Mol Med 8:221-34 (2008) DOI:10.2174/156652408784221298 PMID:14585172 著者 Rudnicki DD, Margolis RL. タイトル Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. 雑誌 Expert Rev Mol Med 5:1-24 (2003) DOI:10.1017/S1462399403006598 PMID:12464607 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 J Biol Chem 278:13047-55 (2003) DOI:10.1074/jbc.M211224200 PMID:10677044 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 Neuron 24:275-86 (1999) DOI:10.1016/S0896-6273(00)80839-9 PMID:10434307 著者 Kanazawa I タイトル Molecular pathology of dentatorubral-pallidoluysian atrophy. 雑誌 Philos Trans R Soc Lond B Biol Sci 354:1069-74 (1999) DOI:10.1098/rstb.1999.0460 PMID:10434299 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 Philos Trans R Soc Lond B Biol Sci 354:1005-11 (1999) DOI:10.1098/rstb.1999.0452 PMID:9933295 著者 Kanazawa I タイトル Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. 雑誌 Neurogenetics 2:1-17 (1998) DOI:10.1007/s100480050046 |