Deep brain stimulation in a patient with dystonic tremor with a novel familial VPS16 gene mutation

Dystonia is a neurological disorder characterized by intermittent muscle contractions or abnormal movements. The pathophysiology and pathogenetic variations are increasingly better understood, but their translation into appropriate treatment is still largely lacking. We present a case of a woman suffering from a dystonic tremor of the upper limbs and head. Both the patient treated with DBS and her sister carry a novel mutation in the VPS16 gene. Treatment proved to be successful through deep brain stimulation targeting the ventral intermediate nucleus of the thalamus.