Dentatorubropallidoluysian atrophy (DRPLA)

Definition:

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 40 years).

References:

[1]. C A Ross, et al. Polyglutamine pathogenesis. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1005-11. [Content Brief]

[2]. Dobrila D Rudnicki, et al. Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Expert Rev Mol Med. 2003 Aug 22;5(21):1-24. [Content Brief]

[3]. Frederick C Nucifora Jr, et al. Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. J Biol Chem. 2003 Apr 11;278(15):13047-55. [Content Brief]

[4]. G Schilling, et al. Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron. 1999 Sep;24(1):275-86. [Content Brief]

[5]. I Kanazawa, et al. Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics. 1998 Dec;2(1):1-17. [Content Brief]

[6]. I Kanazawa, et al. Molecular pathology of dentatorubral-pallidoluysian atrophy. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1069-74. [Content Brief]

[7]. Masahisa Katsuno, et al. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. 2008 May;8(3):221-34. [Content Brief]

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