title: Supranuclear vertical gaze abnormalities in sporadic Creutzfeldt-Jakob disease.
abstract: Supranuclear gaze palsies are an uncommon feature of Creutzfeldt-Jakob disease (CJD). Most reported cases of CJD with features of supranuclear gaze palsy are familial. We report 2 patients with supranuclear vertical gaze abnormalities associated with spongiform changes in the midbrain. Both patients were found to have sporadic CJD after genetic testing. Distinguishing familial from sporadic CJD in this setting has important genetic and epidemiological implications.
authors.affiliation: Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia 19104, United States. sashank.prasad@uphs.upenn.edu
authors.forename: Sashank
authors.initials: S
authors.lastname: Prasad
authors.forename: Melissa W
authors.initials: MW
authors.lastname: Ko
authors.forename: Edward B
authors.initials: EB
authors.lastname: Lee
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Gonatas
authors.forename: Matthew B
authors.initials: MB
authors.lastname: Stern
authors.forename: Steven
authors.initials: S
authors.lastname: Galetta
mesh_terms: D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000473:pathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013494:Supranuclear Palsy, Progressive / Q000209:etiology* / Q000473:pathology