dentatorubral and pallidoluysian atrophy(redirected from MIM 125370)
dentatorubral and pallidoluysian atrophyAn autosomal-dominant CAG repeat disease which is characterised by spinocerebellar degeneration, with selective destruction of cerebellar neurons—dentate nucleus, globus pallidus, and Luys body.
Progressive ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia, mental retardation.
Machado-Joseph disease, spinocerebellar ataxia type 1, Huntington’s disease.
DRPLA is caused by an expansion of the polyglutamine region of ATN1, on chromosome 12p13.31, which encodes atrophin-1—which is thought to contain a nuclear localisation signal in the N-end and a nuclear export signal in the C-end.