A case of codon 232 mutation-induced Creutzfeldt-Jakob disease visualized by the MRI-FLAIR images with atypical clinical symptoms

Tsugumichi Saito, Kazuo Isozumi, Satoru Komatsumoto, Masaharu Nara, Keiji Suzuki, Kastumi Doh-Ura

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

A 50-year-old man was admitted to our hospital because of disorientation and nocturnal restlessness. The patient presented chronically progressive dementia. No myoclonus or periodic synchronous discharge (PSD) was found over time, with abnormal evidence in MRI-FLAIR (fluid-attenuated inversion recovery) images alone. Brain biopsy and prion protein gene analysis led to the final diagnosis of Creutzfeldt-Jakob disease (CJD) induced by the point mutation at codon 232 (Met to Arg). To date the cases of M232R mutation- induced CJD have been reported to present clinical symptoms and pathological evidences similar to sporadic CJD cases, and differential diagnosis between the types has been believed to be difficult. Our case suggests that some types of CJD induced by point mutation at codon 232 cannot be easily inferred from clinical findings.

Original languageEnglish
Pages (from-to)51-54
Number of pages4
JournalClinical Neurology
Volume40
Issue number1
Publication statusPublished - 2000 Jan 1
Externally publishedYes

Keywords

  • Codon 232
  • Creutzfeldt-Jakob disease
  • FLAIR images
  • MRI
  • Priori protein (PrP) gene

ASJC Scopus subject areas

  • Clinical Neurology

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