NR AVWK
AU Fulbright,R.K.; Kingsley,P.B.; Guo,X.; Hoffmann,C.; Kahana,E.; Chapman,J.C.; Prohovnik,I.
TI The imaging appearance of Creutzfeldt-Jakob disease caused by the E200K mutation
QU Magnetic Resonance Imaging 2006 Nov; 24(9): 1121-9
PT journal article; research support, n.i.h., extramural
AB The E200K mutation on chromosome 20 can cause familial Creutzfeldt-Jakob disease (CJD). Patients with this mutation are clinically similar to those with sporadic CJD, but their imaging features are not well documented. We report here the quantitative and qualitative evaluation of the magnetic resonance (MR) imaging characteristics of this unique group of patients using three-dimensional spoiled gradient recalled (SPGR) echo images, diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurements, MR spectroscopy and a fluid-attenuated inversion recovery (FLAIR) sequence. The SPGR and ADC data were analyzed with SPM99. ANCOVA and regression models were used for a region-of-interest (ROI) analysis of ADC and metabolic ratios. CJD patients had a decreased fraction of gray matter and an increased fraction of cerebrospinal fluid (P=.001) in the cortex and cerebellum and increased ADC values in the cortex (P<.001). Focal decreases of ADC were found in the putamen via ROI analysis (548+/-83 vs. 709+/-9 microm(2)/s, P=.02). N-acetyl aspartate (NAA) was generally reduced, with the NAA/Cho ratio lowest in the cingulate gyrus. Qualitative assessment revealed hyperintensities on FLAIR, DWI or both in the putamen (three out of four patients), caudate (three out of four patients) and thalamus. These results provide a framework for future study of patients with genetically defined familial CJD.
MH Brain/pathology; Chromosomes, Human, Pair 20; Creutzfeldt-Jakob Syndrome/*diagnosis/*genetics; *Diffusion Magnetic Resonance Imaging; Female; Humans; Israel; Jews/genetics; Libya/ethnology; *Magnetic Resonance Spectroscopy; Male; Middle Aged; Mutation
AD Robert K. Fulbright (robert.fulbright@yale.edu), Isak Prohovnik, Department of Radiology, Yale University School of Medicine, MRRC, The Anlyan Center N137, P.O. Box 208043, New Haven, CT 06520-8043, USA; Peter B. Kingsley, Department of Radiology, North Shore University Hospital, Manhasset, NY 11030, USA, Department of Radiology, New York University School of Medicine, New York, NY 10016, USA; Xiaodong Guo, Isak Prohovnik, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10468, USA; Chen Hoffmann, Department of Radiology, Chaim Sheba Medical Center, Ramat Gan 52621, Israel; Esther Kahana, Joab C. Chapman (joab.chapman@sheba.health.gov.il), Department of Neurology, Chaim Sheba Medical Center, Ramat Gan 52621, Israel; Isak Prohovnik, Department of Radiology, Mount Sinai School of Medicine, New York, NY 10468, USA
SP englisch
PO USA