Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation

Monica M. Kurtis, Marta San Luciano, Qiping Yu, Robert R. Goodman, Blair Ford, Deborah Raymond, Seth L. Pullman, Rachel Saunders-Pullman

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

Abstract

Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.

Original languageEnglish
Pages (from-to)149-152
Number of pages4
JournalClinical Neurology and Neurosurgery
Volume112
Issue number2
DOIs
StatePublished - Feb 2010
Externally publishedYes

Keywords

  • Deep brain stimulation
  • Epsilon-sarcoglycan
  • Myoclonus-dystonia
  • Neurophysiology
  • SGCE
  • Surgery

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