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January 2017

Pallidal Deep Brain Stimulation for the Treatment of Levodopa-Responsive Juvenile Dystonia and Parkinsonism Secondary to SPG11 Mutation

Author Affiliations
  • 1Department of Neurology, Albany Medical Center, Albany, New York
  • 2Department of Neurosurgery, Albany Medical Center, Albany, New York
  • 3Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, New York
JAMA Neurol. 2017;74(1):127-128. doi:10.1001/jamaneurol.2016.4297

Autosomal recessive hereditary spastic paraparesis with thinning of the corpus callosum is characterized by early-onset involvement of corticospinal tract and muscle stiffness, followed by slow development of progressive spastic paraparesis, cognitive deterioration, predominantly axonal polyneuropathy, and motor symptoms. Mutations in the spatacsin gene (SPG11 [OMIM 610844]) are responsible for 41% to 77% of all forms of autosomal recessive hereditary spastic paraparesis with thinning of the corpus callosum.1 Uncommon presentations, including levodopa-responsive juvenile dystonia and parkinsonism, have been recently described in several reports.2 Patients gradually develop increasing disability until they are wheelchair bound and cannot live independently.2 Management is complicated by disease progression and severe motor fluctuations resembling Parkinson disease (PD). Nevertheless, the response of motor symptoms to deep brain stimulation (DBS) and intraoperative neurophysiologic basal ganglia data in this condition are unknown.

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