Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

• Published in: European journal of neurology Vol. 23; no. 5; pp. 871 - 877
• Main Authors: Cohen, O. S., Kimiagar, I., Korczyn, A. D., Nitsan, Z., Appel, S., Hoffmann, C., Rosenmann, H., Kahana, E., Chapman, J.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.05.2016; John Wiley & Sons, Inc
• Subjects: Aged; Animals; Cognition Disorders - diagnosis; Cognition Disorders - diagnostic imaging; Cognition Disorders - genetics; Creutzfeldt-Jakob Syndrome - diagnosis; Creutzfeldt-Jakob Syndrome - diagnostic imaging; Creutzfeldt-Jakob Syndrome - genetics; Creutzfeldt−Jakob disease; E200K mutation; Female; Humans; Jews; Magnetic Resonance Imaging; Male; Middle Aged; Movement Disorders - diagnosis; Movement Disorders - diagnostic imaging; Movement Disorders - genetics; Mutation; neuroimaging; Prion Proteins - genetics; Prospective Studies; Symptom Assessment; Creutzfeldt−Jakob disease; E200K mutation; neuroimaging
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/ene.12955

Background and propose 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.