title: Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
abstract: BACKGROUND
  The progressive myoclonic epilepsies (PMEs) are a disparate group of syndromes whose common features include disabling myoclonus, progressive cognitive decline, and seizures, typically with a relentless deterioration over time.
  
  
  OBJECTIVE
  To report a novel PME syndrome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Epilepsy service in a tertiary care urban medical center.
  
  
  METHODS
  A 24-year-old man with progressive myoclonus, seizures, and unique features of preserved intellect and demyelinating peripheral neuropathy.
  
  
  METHODS
  Detailed clinical assessment, electrophysiologic studies, and survey of the literature.
  
  
  RESULTS
  We characterize an unusual PME phenotype with unique features of preserved intellect and electrophysiologic evidence of a generalized demyelinating peripheral neuropathic condition. An extensive diagnostic evaluation did not reveal an underlying cause, and a literature survey did not identify other, similar clinical reports.
  
  
  CONCLUSIONS
  We describe a novel PME syndrome with preserved intellect and demyelinating peripheral neuropathy.
authors: Epilepsy Service, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. djcostello@partners.org
authors: Daniel J
authors: DJ
authors: Costello
authors: Keith H
authors: KH
authors: Chiappa
authors: Peter
authors: P
authors: Siao
mesh_terms: D004569:Electroencephalography / Q000379:methods; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D006801:Humans; D007360:Intelligence; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications*; D009431:Neural Conduction / Q000502:physiology; D011129:Polyradiculoneuropathy / Q000150:complications*; D055815:Young Adult