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

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

Research output: Contribution to journalArticle

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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

Fingerprint

Creutzfeldt-Jakob Syndrome
Staphylococcal Protein A
Point Mutation
Codon
Akinetic Mutism
Cerebellar Ataxia
Protein Sequence Analysis
DNA Sequence Analysis
Fathers
Dementia
Electroencephalography
Mutation
Genes
Prion Proteins

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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.

Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - A case report. / Shimizu, Toshihiko; Tanaka, K.; Tanahashi, N.; Fukuuchi, Y.; Kitamoto, T.

In: Clinical Neurology, Vol. 34, No. 6, 1994, p. 590-592.

Research output: Contribution to journalArticle

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, vol. 34, no. 6, pp. 590-592.
Shimizu T, Tanaka K, Tanahashi N, Fukuuchi Y, Kitamoto T. Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - A case report. Clinical Neurology. 1994;34(6):590-592.
Shimizu, Toshihiko ; Tanaka, K. ; Tanahashi, N. ; Fukuuchi, Y. ; Kitamoto, T. / Creutzfeldt-Jakob disease with a point mutation at codon 232 of prion protein - A case report. In: Clinical Neurology. 1994 ; Vol. 34, No. 6. pp. 590-592.
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