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About: Dentatorubral–pallidoluysian atrophy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It is also known as Haw River Syndrome and Naito–Oyanagi disease. Although this condition was perhaps first described by Smith et al. in 1958, and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan.