title: Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome.
abstract: BACKGROUND
  Sporadic fatal insomnia is a rare prion disease that has recently been recognized.
  
  
  OBJECTIVE
  To report a unique case of sporadic fatal insomnia in a woman with progressive cerebellar deterioration who was originally thought to have a paraneoplastic cerebellar syndrome.
  
  
  METHODS
  Case report describing a patient with autopsy-proven sporadic fatal insomnia.
  
  
  METHODS
  A 56-year-old woman with progressive cerebellar ataxia who was found to have a retroperitoneal non-Hodgkin lymphoma.
  
  
  RESULTS
  Autopsy demonstrated marked degenerative changes in the thalamus, cerebellum, and inferior olivary nucleus. A mild spongiform change was present in the thalamus and cortical gray matter. Western blot analysis confirmed the presence of abnormal, protease-resistant prion protein (PrP(Sc)), characteristic of sporadic fatal insomnia.
  
  
  CONCLUSIONS
  Clinicians should be aware of this rare prion disease and should strongly consider the importance of autopsy toward the investigation of unusual neurological diseases.
authors.affiliation: Neuroimmunology Unit, Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 605, Rochester, NY 14642, USA. lahar_mehta@urmc.rochester.edu
authors.forename: Lahar R
authors.initials: LR
authors.lastname: Mehta
authors.forename: Brent J
authors.initials: BJ
authors.lastname: Huddleston
authors.forename: Elaine J
authors.initials: EJ
authors.lastname: Skalabrin
authors.forename: James B
authors.initials: JB
authors.lastname: Burns
authors.forename: Wen-Quan
authors.initials: WQ
authors.lastname: Zou
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Gambetti
authors.forename: Steven S
authors.initials: SS
authors.lastname: Chin
mesh_terms: D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000473:pathology; D008875:Middle Aged; D020362:Paraneoplastic Cerebellar Degeneration / Q000175:diagnosis* / Q000473:pathology