| H00060 | |
| H number | H00060 |
| Name | Dentatorubropallidoluysian atrophy (DRPLA) |
| Description | 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). |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | ATN1; atrophin 1 (CAG repeat expansion) [HSA:1822] [KO:K05626] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disease class: polyglutamine disease Affected region: cerebellum, cerebral cortex, basal ganglia, Luys body Microscopic lesion: neuronal and glial intranuclear inclusions |
| Other DBs | ICD-11: 8A01.12 ICD-10: G11.2 OMIM: 125370 |
| Reference | PMID:18473821 AUTHORS Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Tanaka F, Adachi H, Sobue G TITLE Molecular genetics and biomarkers of polyglutamine diseases. JOURNAL Curr Mol Med 8:221-34 (2008) DOI:10.2174/156652408784221298 PMID:14585172 AUTHORS Rudnicki DD, Margolis RL. TITLE Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. JOURNAL Expert Rev Mol Med 5:1-24 (2003) DOI:10.1017/S1462399403006598 PMID:12464607 AUTHORS Nucifora FC Jr, Ellerby LM, Wellington CL, Wood JD, Herring WJ, Sawa A, Hayden MR, Dawson VL, Dawson TM, Ross CA TITLE Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. JOURNAL J Biol Chem 278:13047-55 (2003) DOI:10.1074/jbc.M211224200 PMID:10677044 AUTHORS 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 TITLE Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. JOURNAL Neuron 24:275-86 (1999) DOI:10.1016/S0896-6273(00)80839-9 PMID:10434307 AUTHORS Kanazawa I TITLE Molecular pathology of dentatorubral-pallidoluysian atrophy. JOURNAL Philos Trans R Soc Lond B Biol Sci 354:1069-74 (1999) DOI:10.1098/rstb.1999.0460 PMID:10434299 AUTHORS Ross CA, Wood JD, Schilling G, Peters MF, Nucifora FC Jr, Cooper JK, Sharp AH, Margolis RL, Borchelt DR TITLE Polyglutamine pathogenesis. JOURNAL Philos Trans R Soc Lond B Biol Sci 354:1005-11 (1999) DOI:10.1098/rstb.1999.0452 PMID:9933295 AUTHORS Kanazawa I TITLE Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. JOURNAL Neurogenetics 2:1-17 (1998) DOI:10.1007/s100480050046 |