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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of the Neurological Sciences
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Prospective 10-year surveillance of human prion diseases in Japan.Brain. 2010; 133: 3043-3057
- Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease.Neurology. 2004; 63: 443-449
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.
- Clinical features of Creutzfeldt-Jakob disease with V180I mutation.Neurology. 2004; 62: 502-505
- 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
- Correlation of diffusion-weighted magnetic resonance imaging with neuropathology in Creutzfeldt-Jakob disease.Arch Neurol. 2002; 59: 128-134
- Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease.Neurology. 2009; 72: 1425-1431
- Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt-Jakob disease patient with V180I mutation.J Neurol Sci. 2011; 301: 100-103
Published online: May 29, 2012
Accepted: April 3, 2012
Received in revised form: April 2, 2012
Received: December 20, 2011
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.