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Images in Neurology |

Serial Magnetic Resonance Imaging Changes in Sporadic Creutzfeldt-Jakob Disease With Valine Homozygosity at Codon 129 of the Prion Protein Gene

Fumiko Furukawa, MD1; Satoru Ishibashi, MD, PhD1; Nobuo Sanjo, MD, PhD1; Hiroshi Yamashita, MD, PhD2; Hidehiro Mizusawa, MD, PhD1,3
[+] Author Affiliations
1Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan
2Department of Neurology, Hiroshima City Asa Hospital, Tokyo, Japan
3currently with The National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
JAMA Neurol. 2014;71(9):1186-1187. doi:10.1001/jamaneurol.2014.548.
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Sporadic Creutzfeldt-Jakob disease (sCJD) accompanied by type 2 PrPSc and valine homozygosity at codon 129 (VV2) of the prion protein gene (PRNP) is a representative sCJD having the 129VV genotype, which does not show prominent myoclonus or periodic sharp wave complexes. Magnetic resonance imaging (MRI) findings of patients with sCJD having the 129VV genotype have rarely been reported.1

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Serial Diffusion-Weighted Magnetic Resonance Imaging of the Brain After Disease Onset

Images acquired at 1 (A), 4 (B), and 5 (C) months after onset. Hyperintense areas are first seen mainly in the bilateral ventral anterior, ventral lateral, and lateral dorsal nuclei (A, arrows), then spread bilaterally to the entire thalamus and caudate nuclei (B and C), and finally to the putamen (C).

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