Novel ATP1A3 mutation in a sporadic RDP patient with partial benefit from deep brain stimulation

Rapid Onset Dystonia-Parkinsonism (RDP) is a very rare, autosomal dominantly inherited movement disorder, characterized by abrupt or subacute onset of both dystonic symptoms and parkinsonism with prominent bulbar involvement. Recently, six missense mutations in highly conserved regions of the ATP1A3 gene have been identified in four families and three sporadic patients. This gene encodes a Na+/K+-Pase responsible for maintaining the electrochemical gradient across cell membranes. We here report a novel de novo ATP1A3 mutation, a heterozygous in-frame deletion of three basepairs (CTG) at position 976–978 or 979–9…