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J Neurol Sci. 2012 Aug 15;319(1-2):130-2. doi: 10.1016/j.jns.2012.04.004. Epub 2012 May 27.

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

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Department of Clinical Neuroscience, School of Medicine, University of Tokushima, Tokushima, Japan.


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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