title: Clinical experiences with Creutzfeldt-Jakob disease: three case studies.
abstract: The clinical picture, electroencephalographic, imaging and cerebrospinal fluid parameters as well as the molecular background of Creutzfeldt-Jakob disease have been well explored. The diagnostic criteria, offering clinicians a fair chance to identify these patients in vivo, have recently been updated. However, the diagnosis is still a challenge in everyday neurological routine. We report on three of our Creutzfeldt-Jakob patients for calling attention to the classical and the recently defined features of the disease. We conclude that based on the rapidly progressing neuropsychiatric syndrome Creutzfeldt-Jakob disease may be suspected; follow-up EEG may reveal the typical (pseudo)-periodic pattern with progressive deterioration of the background activity. In addition, diffusion-weighted brain MRI imaging (DWI) has high diagnostic value. Detection of 14-3-3 protein in the cerebrospinal fluid supports the in vivo diagnosis.
authors.affiliation: National Institute of Neurosciences, Budapest. szucsan@gmail.com
authors.forename: Anna
authors.initials: A
authors.lastname: Szucs
authors.forename: Péter
authors.initials: P
authors.lastname: Várallyay
authors.forename: Eva
authors.initials: E
authors.lastname: Osztie
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Papp
authors.forename: András
authors.initials: A
authors.lastname: Sólyom
authors.forename: Lehel
authors.initials: L
authors.lastname: Finta
authors.forename: Dániel
authors.initials: D
authors.lastname: Varga
authors.forename: Gábor
authors.initials: G
authors.lastname: Barcs
authors.forename: András
authors.initials: A
authors.lastname: Holló
authors.forename: Anita
authors.initials: A
authors.lastname: Kamondi
mesh_terms: D000368:Aged; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000209:etiology; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008239:Lysine; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D012640:Seizures / Q000209:etiology; D013064:Speech Disorders / Q000209:etiology
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D018698:Glutamic Acid; D008239:Lysine