Parkinsonism and rare type of SPG11 HSP

Treatment with deep brain stimulation successful


A particular type of SPG11 HSP known to respond to the drug levodopa, has been successfully treated in a young woman in the US using deep brain electrical stimulation.


Deep-brain stimulation (DBS) of the globus pallidus interna (GPi) significantly improved symptoms in a patient with refractory parkinsonism and a specific genetic mutation.


Researchers believe this is the first case of juvenile-onset levodopa-responsive parkinsonism secondary to a mutation in the spatacsin gene (SPG11) treated with GPi DBS.


They also collected what they think are the first electrophysiologic basal ganglia data in this condition.


“The importance of this report is to alert physicians that if they have a patient with symptoms that resemble Parkinson’s disease in early adulthood, with stiffness in the legs, they should consider this mutation,” author Adolfo Ramirez-Zamora, MD, Department of Neurology, Albany Medical Center, New York, told Medscape Medical News. “Although rare, it is something that actually responds to DBS.” Read more…


SOURCE: JAMA Neurol. Published online November 7, 2016. Letter, Viewpoint


by Pauline Anderson


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