Don’t Disregard Deep Brain Stimulation in Patients with Concomitant Gaucher and Parkinson Disease

  • Mafalda Seabra Centro Hospitalar e Universitário de São João
  • Carolina Lopes
  • Manuela Costa
  • Leonor Correia Guedes
  • Maria José Rosas
Keywords: Parkinson’s disease, neuropsychology, Gaucher disease, GBA gene mutation


Gaucher disease and Parkinson’s disease can co-occur, and mutations in the glucocerebrosidase (GBA) gene are considered the most common genetic association with Parkinson´s disease.  Response to pharmacological and surgical therapies is poorly studied.  We present the case of a patient diagnosed with Gaucher disease at 18 years old.  At 59 years old right foot dystonia was first noticed.  Levodopa was initiated and two years later motor dyskinesias were incapacitating.  Although neuropsychological testing showed frontal dysfunction, as the deficit was stable, subthalamic nucleus deep brain stimulation was tried in October 2017.  More than one year later the patient remains active and autonomous.


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