期刊
MAGNETIC RESONANCE IMAGING
卷 24, 期 9, 页码 1121-1129出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.mri.2006.07.001
关键词
neurodegenerative disease; diffusion-weighted imaging; MR spectroscopy; MR imaging
资金
- NINDS NIH HHS [R01 NS43488] Funding Source: Medline
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 mu m(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. (c) 2006 Elsevier Inc. All rights reserved.
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