MedicalResearch.com Interview with:
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| Dr. Adolfo Ramirez Zamora |
Adolfo Ramirez Zamora, MD
Associate Professor of Neurology and
Phyllis E. Dake Endowed Chair in Movement Disorders
Department of Neurology
Albany Medical College
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Patients with SPG 11 mutations can present with motor symptoms characterized by juvenile onset dystonia, Parkinsonism and lower extremity spasticity. Parkinsonism appears to be responsive to levodopa therapy early in the disease but treatment is complicated by the occurrence of motor fluctuations resembling parkinson disease. Patients have short duration of medication effects, unpredictable response to medications along with generalized, excessive involuntary movements known as dyskinesias.
Deep Brain stimulation is a well-established treatment for movement disorders but it has never been used in this disease. We first report the clinical outcome obtained with globus pallidus internal deep brain stimulation in a patient with parkinsonism, dystonia, dyskinesias related to SPG 11. Additionally, we report for the first time the basal ganglia changes observed in the disease using intraoperative neuronal recordings. Patient had a sustained and remarkable response to stimulation over the next two years without side effects. Neurophysiologic changes revealed a unique pattern of neuronal firing despite of the resemblance to advance Parkinsons disease.
MedicalResearch.com: What should readers take away from your report?
Response: Deep Brain Stimulation should be consider as a treatment options in patients with refractory dystonia, dyskinesias, tremor and parkinsonism due to SPG 11 mutations.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Additional research is needed to define the pathophysiology of the disease and potential neuroprotective or disease modifying therapies.
MedicalResearch.com: Is there anything else you would like to add?
Response: Despite resolution of Parkinsonism and dystonia, lower extremity spasticity continued to progresses in our patient severely limiting her gait and ambulation.
MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.
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