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AJNR - American Journal of Neuroradiology

Publication Preview: Published July 17, 2008

American Journal of Neuroradiology 2008;29:1638.

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American Journal of Neuroradiology
DOI 10.3174/ajnr.A1217

BRAIN

MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study

R.K. Fulbright, C. Hoffmann, H. Lee, A. Pozamantir, J. Chapman and I. Prohovnik

From the Department of Radiology (R.K.F., I.P.), Yale University School of Medicine, New Haven, Conn; Departments of Radiology (C.H.) and Neurology (J.C.), Chaim Sheba Medical Center, Ramat Gan, Israel; Departments of Psychiatry (H.L., A.P., I.P.) and Radiology (I.P.), Mount Sinai School of Medicine, New York, NY; and Sackler Faculty of Medicine (J.C.), Tel Aviv University, Tel Aviv, Israel.

Please address correspondence to Robert K. Fulbright, Yale University School of Medicine, MRRC, The Anlyan Center N137, 300 Cedar St, PO Box 208043, New Haven, CT 06520-8043; E-mail: robert.fulbright{at}yale.edu

BACKGROUND AND PURPOSE: The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form. The purpose of this study was to conduct a controlled and blinded evaluation of the sensitivity and specificity of MR imaging in this unique population.

MATERIALS AND METHODS: We compared the MR imaging characteristics of 15 early stage familial CJD patients (age, 60 ± 7 years) with a group of 22 healthy subjects from the same families (age, 61 ± 8 years). MR imaging included diffusion-weighted imaging (DWI), T2-weighted fast spin-echo imaging, and a fluid-attenuated inversion recovery (FLAIR) sequence. The scans were rated for abnormalities by an experienced neuroradiologist blind to diagnosis, group assignment, age, and sex.

RESULTS: Thirteen of 15 fCJD subjects had abnormal MR imaging. FLAIR signal intensity abnormality in the caudate or putamen nuclei demonstrated a sensitivity of 87% and specificity of 91%. DWI abnormality in the caudate nucleus showed a sensitivity of 73% and a specificity of 100%. Abnormalities in the thalamus (6 patients), cingulate gyrus (6 patients), frontal lobes (4 patients), and occipital lobes (3 patients) were best detected with DWI. No signal intensity abnormalities were demonstrated in the cerebellum. T2-weighted and T1-weighted sequences were uninformative.

CONCLUSIONS: FLAIR and DWI abnormalities in the caudate nucleus and putamen offer the best sensitivity and specificity for diagnosing fCJD. Our findings support recent recommendations that MR imaging should be added to the diagnostic evaluation of CJD.

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