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Images in Neurology
September 2014

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

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

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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