Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease.
The use of diffusion MRI improved the accuracy of diagnosis in Creutzfeldt-Jakob disease (CJD) and expanded our knowledge of the changes occurring in the brain during the disease. The aim of this study was to test whether in patients with E200K familial CJD (fCJD) the clinical severity correlates with the disease burden as reflected by the extent of cortical involvement in DWI MRI. Consecutive fCJD patients were examined by a neurologist who performed several tests including the CJD neurological scale (CJD-NS), MiniMental status examination (MMSE), Frontal Assessment Battery (FAB), NIH Stroke Scale (NIHSS), and the expanded disability status scale (EDSS). A simultaneously acquired MRI was analyzed by measuring the extent of cortical involvement in the DWI axial sequence. Correlations were tested for using Pearson test. Fifty-two fCJD patients (35 males, mean age 59.4 ± 5.7 years) were recruited to the study. Significant negative correlation was found between the extent of cortical involvement and the cognitive performance of the patients as reflected by their MMSE and FAB scores. In addition, a significant positive correlation was found between the MRI and the clinical disease severity scales CJD-NS and EDSS. The correlation between clinical scales of severity and cognitive dysfunction and the disease burden confirms the reliability of the CJD-NS scale. Further studies are warranted to examine whether MRI may serve not only for diagnosis but also as a biomarker for follow-up of disease progression and the efficacy of potential treatments.
Department of Neurology, Assaf Harofeh Medical Center, Zerifin, 70300, Israel. coheno@asaf.health.gov.il.|Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel. coheno@asaf.health.gov.il.
Oren S
OS
Cohen
Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.|Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.|Robert and Martha Harden Chair in Mental and Neurological Diseases, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Joab
J
Chapman
Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Amos D
AD
Korczyn
St. George's University of London, Engomi, Cyprus.
Oliver L
OL
Siaw
Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Naama
N
Warman-Alaluf
Department of Neurology, Barzilai Medical Center, Ashkelon, Israel.
Zeev
Z
Nitsan
Department of Neurology, Barzilai Medical Center, Ashkelon, Israel.
Shmuel
S
Appel
Department of Neurology, Barzilai Medical Center, Ashkelon, Israel.
Esther
E
Kahana
Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Hanna
H
Rosenmann
Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.|Department of Radiology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Chen
C
Hoffmann
D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000209:etiology; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D038524:Diffusion Magnetic Resonance Imaging; D004185:Disability Evaluation; D005192:Family Health; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011328:Prions / Q000235:genetics; D013223:Statistics as Topic
D011328:Prions
Cognitive decline; Creutzfeldt–Jakob disease; E200K mutation