NR AWFL
AU Gigi,A.; Kahana,E.; Prohovnik,I.; Chapman,J.C.
TI Long lasting familial Creutzfeldt-Jakob Disease without dementia: a case study
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Poster sessions PR-15
PT Konferenz-Poster
AB Creutzfeldt-Jakob Disease (CJD) is a fatal neurodegenerative disorder, often with a sudden onset and ultimately terminal, usually within a few months. The clinical characterization of CJD includes diverse neurological and psychiatric signs, but the major clinical symptom is a rapidly progressing dementia. Here we describe an unusual familial case of a 72 years old woman that was diagnosed with CJD and died a few months later without signs of dementia or any psychiatric disturbances and with very minor cognitive deterioration. She was firstly tested in 1998 and retested in 1999 as healthy subject in a study related to preclinical signs in CJD (Gigi et al, 2005). In June 2004, she was hospitalized in the department of neurology with suspected CJD. Her clinical picture included dizziness and headaches, coordination disturbances in her left hand, motor speech difficulty and progressive weakness of all four limbs that reached full paralysis. Diagnosis was based on MRI, EEG, positive result for the CSF 14-3-3 test and positive PRNP E200K mutation. However, she showed only slight deterioration in cognitive tests performance in comparison to seven years before. Moreover, it appeared that her functioning in some of the tests were poor even in 1998. This case is an unusual appearance of CJD without any dementia signs, and according to the tests results it is possible that she was ill for at least 7 years. The pathogenesis of familial CJD may be different from previous concepts. Was supported by NIH grant NS04388
AD A. Gigi: The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel-Hashomer 52621, Israel and Department of Behavioural Science, College of Judea and Samaria, Ariel 44837, Israel; E. Kahana: Neurology Unit, Barzilai Medical Center, Ashkelon, Israel; I. Prohovnik: Department of Psychiatry & Radiology, Mount Sinai Medical Center, NY, USA; Joab C. Chapman (joab.chapman@sheba.health.gov.il): The department of Neurology, Sheba Medical Center, Tel-Hashomer, and Sackler Faculty of Medicine, Tel Aviv University, Israel
SP englisch
PO Italien