Research Article| Volume 319, ISSUE 1-2, P130-132, August 15, 2012

Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset


      Familial Creutzfeldt-Jakob disease (CJD) with V180I shows different clinical characteristics from classical CJD and is difficult to diagnose in the early stage. We report a CJD180 patient in whom results of diffusion-weighted imaging (DWI) led us to suspect CJD before symptoms started. A 68-year-old woman presented to our hospital with headache and nausea and underwent magnetic resonance imaging. DWI showed cortical hyperintensity. Three months later, cognitive function started to decline and CJD180 was diagnosed following genetic examination. In the early stage, ADC values were not decreased and single positron emission computed tomography demonstrated a decreased pattern like Alzheimer disease.


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        • Nozaki I.
        • Hamaguchi T.
        • Sanjo N.
        • Noguchi-Shinohara M.
        • Sakai K.
        • Nakamura Y.
        • et al.
        Prospective 10-year surveillance of human prion diseases in Japan.
        Brain. 2010; 133: 3043-3057
        • Shiga Y.
        • Miyazawa K.
        • Sato S.
        • Fukushima R.
        • Shibuya S.
        • Sato Y.
        • et al.
        Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease.
        Neurology. 2004; 63: 443-449
      1. Satoh K, Nakaoke R, Nishiura Y, Tsujino A, Motomura M, Yoshimura T, et al. Early detection of sporadic CJD by diffusion-weighted MRI before the onset of symptoms. J Neurol Neurosurg Psychiatry.

        • Jin K.
        • Shiga Y.
        • Shibuya S.
        • Chida K.
        • Sato Y.
        • Konno H.
        • et al.
        Clinical features of Creutzfeldt-Jakob disease with V180I mutation.
        Neurology. 2004; 62: 502-505
        • Mutsukura K.
        • Satoh K.
        • Shirabe S.
        • Tomita I.
        • Fukutome T.
        • Morikawa M.
        • et al.
        Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images.
        Dement Geriatr Cogn Disord. 2009; 28: 550-557
        • Mittal S.
        • Farmer P.
        • Kalina P.
        • Kingsley P.B.
        • Halperin J.
        Correlation of diffusion-weighted magnetic resonance imaging with neuropathology in Creutzfeldt-Jakob disease.
        Arch Neurol. 2002; 59: 128-134
        • Manners D.N.
        • Parchi P.
        • Tonon C.
        • Capellari S.
        • Strammiello R.
        • Testa C.
        • et al.
        Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease.
        Neurology. 2009; 72: 1425-1431
        • Kono S.
        • Manabe Y.
        • Fujii D.
        • Sakai Y.
        • Narai H.
        • Omori N.
        • et al.
        Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt-Jakob disease patient with V180I mutation.
        J Neurol Sci. 2011; 301: 100-103