dentatorubral-pallidoluysian atrophy
- dentatorubral-pallidoluysian atrophy
- (DRPLA) an autosomal dominant neurodegenerative syndrome of myoclonic epilepsy, dementia, ataxia, and choreoathetosis, with combined degeneration of the dentatorubral and pallidoluysian systems. Onset is usually in early adulthood, and it has been found mainly in Japan. It is a triplet repeat disorder associated with expansion of the triplet sequence CAG in the DRPLA gene (locus: 12p13.31), which encodes the atrophin-1 protein, and hence of glutamine residues in the protein, with an inverse correlation between the age of onset and the size of the expansion. Cf. Haw River syndrome.
Medical dictionary.
2011.
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