A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

Research output: Contribution to journalArticle

Abstract

Mutations in the ε-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 ± 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudorhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a "startle-like" muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink re.ex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas.

Original languageEnglish
Pages (from-to)2041-2048
Number of pages8
JournalMovement Disorders
Volume23
Issue number14
DOIs
Publication statusPublished - Oct 30 2008

Keywords

  • Blink reflex
  • ERD-ERS analysis
  • Evoked potentials
  • Myoclonus-dystonia syndrome
  • SGCE gene mutations
  • Transcranial magnetic stimulation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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