Dentatombral-Pallidoluysian Atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominant spinocerebellar degeneration, which similarly to Huntington’s disease and the spinocerebellar atxias mentioned above, is caused by an expansion of a glutamine repeat sequence. In DRPLA, the glutamine repeat is in the protein atrophin-1. The disease is also known as Haw River Syndrome and Naito–Oyanagi disease. It is very rare except in Japan. Depending on the age of onset, DRPLA causes a variety of symptoms, including ataxia, dementia, seizures, and symptoms consistent with progressive myoclonus epilepsy.