Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - A case report

T. Shimizu, K. Tanaka, N. Tanahashi, Y. Fukuuchi, T. Kitamoto

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8 Citations (Scopus)

Abstract

We report a 50-year-old female with sporadic Creutzfeldt-Jakob disease who revealed a point mutation at codon 232 of prion protein (Met to Arg). The initial symptom was visual disturbance. The patient then developed progressive dementia, cerebellar ataxia and myoclous. About eight months after the onset, the patient went into the state of akinetic mutism. The electroencephalogram showed periodic synchronous discharges. From the prion protein's DNA sequencing of the patient's family members, the 84-year-old father without any neurological symptoms was also detected to have a point mutation at codon 232. These findings which, have not been reported before, are interesting when considering the relation between the pathogenesis of Creutzfeldt-Jakob disease and mutations of prion protein gene.

Original languageEnglish
Pages (from-to)590-592
Number of pages3
JournalClinical Neurology
Volume34
Issue number6
Publication statusPublished - 1994 Jan 1

Keywords

  • Creutzfeldt-Jakob disease
  • codon 232
  • point mutation
  • prion protein

ASJC Scopus subject areas

  • Clinical Neurology

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    Shimizu, T., Tanaka, K., Tanahashi, N., Fukuuchi, Y., & Kitamoto, T. (1994). Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - A case report. Clinical Neurology, 34(6), 590-592.