Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180

S. Ishida, M. Sugino, N. Koizumi, K. Shinoda, N. Ohsawa, T. Ohta, T. Kitamoto, J. Tateishi

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)

Abstract

We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jacob disease (CJD), followed with MRI from an early clinical stage. MRI demonstrated expansion of the high cortical signal on T2-weighted images, which differs from previous MRI reports of CJD. This patient followed an atypical clinical course: 16 months had passed before she developed akinetic mutism, and periodic sharp waves had not been detected on EEG after 2 years in spite of her akinetic mutism. Brain biopsy showed primary spongiform changes in the grey matter, and a point mutation of the prion protein gene at codon 180 was discovered using polymerase chain reaction direct sequencing and Tth 111 I cutting. This is the first case with the point mutation of the codon 180 variant with an atypical clinical course and characteristic MRI findings.

Original languageEnglish
Pages (from-to)531-534
Number of pages4
JournalNeuroradiology
Volume37
Issue number7
DOIs
Publication statusPublished - 1995 Oct
Externally publishedYes

Keywords

  • Creutzfeldt-Jacob disease
  • Magnetic resonance imaging
  • Prion protein

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine

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