Pallidotomy for severe generalized chorea of juvenile-onset dentatorubral-pallidoluysian atrophy

Abstract

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal-dominant neurodegenerative disorder with a wide variety of symptoms, depending on the age at onset or number of CAG repeats.1 Juvenile-onset DRPLA is characterized by mental retardation, ataxia, myoclonus epilepsy, and choreoathetosis.1 We report on the effect of pallidotomy in a patient with DRPLA showing severe generalized chorea. A 29-year-old woman presented with involuntary movements. She had developed progressive ataxia, generalized seizure, and mental decline over the last 10 years. By age 26, she had become mute and wheelchair-bound. She developed continuous involuntary movements of the face, neck, and upper extremities at age 28 without exposure to neuroleptics and phenytoin. As the involuntary movements were severe and medically intractable, she was started on a continuous infusion of midazolam and had to be intubated and ventilated; then she was transferred to our hospital. On admission, she was alert without midazolam infusion but did not follow simple commands. She had ceaseless choreiform movements in the face, trunk, and extremities bilaterally. Deep …