title: Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.
abstract: OBJECTIVE
  Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD.
  
  
  METHODS
  The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files.
  
  
  RESULTS
  The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome.
  
  
  CONCLUSIONS
  Our case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.
authors.affiliation: Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.|Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel.|Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: O S
authors.initials: OS
authors.lastname: Cohen
authors.affiliation: Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel.|Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Kimiagar
authors.affiliation: Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.affiliation: Barzilai Medical Center, Ashkelon, Israel.
authors.forename: Z
authors.initials: Z
authors.lastname: Nitsan
authors.affiliation: Barzilai Medical Center, Ashkelon, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Appel
authors.affiliation: Department of Radiology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: C
authors.initials: C
authors.lastname: Hoffmann
authors.affiliation: Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Rosenmann
authors.affiliation: Barzilai Medical Center, Ashkelon, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Kahana
authors.affiliation: Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.|Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Chapman
mesh_terms: D000368:Aged; D000818:Animals; D003072:Cognition Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D007585:Jews; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation; D000072002:Prion Proteins / Q000235:genetics; D011446:Prospective Studies; D063189:Symptom Assessment
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins
keywords: Creutzfeldt−Jakob disease; E200K mutation; neuroimaging