Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease
Corresponding Author
O. S. Cohen
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
Correspondence: O. Cohen, Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel (tel.: +972-3-5304932; fax: +972-3-5305323; e-mail: [email protected]).Search for more papers by this authorI. Kimiagar
Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorA. D. Korczyn
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorC. Hoffmann
Department of Radiology, Chaim Sheba Medical Center, Tel-Hashomer, Israel
Search for more papers by this authorH. Rosenmann
Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Search for more papers by this authorJ. Chapman
Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, Israel
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorCorresponding Author
O. S. Cohen
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
Correspondence: O. Cohen, Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel (tel.: +972-3-5304932; fax: +972-3-5305323; e-mail: [email protected]).Search for more papers by this authorI. Kimiagar
Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorA. D. Korczyn
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorC. Hoffmann
Department of Radiology, Chaim Sheba Medical Center, Tel-Hashomer, Israel
Search for more papers by this authorH. Rosenmann
Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Search for more papers by this authorJ. Chapman
Department of Neurology, Chaim Sheba Medical Center, Tel-Hashomer, Israel
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Search for more papers by this authorAbstract
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.
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