KEGG   DISEASE: Dentatorubropallidoluysian atrophy (DRPLA)
Entry
H00060                      Disease                                
Name
Dentatorubropallidoluysian atrophy (DRPLA)
  Supergrp
Progressive myoclonic epilepsy [DS:H00810]
Spinocerebellar degeneration [DS:H01616]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A01  Choreiform disorders
    H00060  Dentatorubropallidoluysian atrophy (DRPLA)
Gene
ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626]
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
PMID:9933295
  Authors
Kanazawa I
  Title
Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.
  Journal
Neurogenetics 2:1-17 (1998)
DOI:10.1007/s100480050046

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (7)   
   PubMed (7)   
All databases (10)   

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