緩徐な臨床経過後に急速進行性認知機能障害を呈し E200K 変異にコドン 219Lys 多型を伴った遺伝性 Creutzfeldt-Jakob disease の 1 例

Translated title of the contribution: Genetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course

Mika Takayanagi, Keisuke Suzuki, Toshiki Nakamura, Koichi Hirata, Katsuya Satoh, Tetsuyuki Kitamoto

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

A 57-year-old man developed rapidly progressive dementia and a gait disturbance over 4 months. The patient had a slowly progressive executive dysfunction and speech problems for 4 years and was previously monitored in our outpatient clinic following a diagnosis of frontotemporal dementia. Diffusion-weighted MRI revealed high signal intensities in the right caudate nucleus and the bilateral cortices. Cerebrospinal fluid analysis showed increased levels of the 14-3-3 and total tau proteins. Periodic synchronous discharge was not evident on an electroencephalogram. Prion protein gene analysis identified a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation, leading to a genetic diagnosis of genetic Creutzfeldt-Jakob disease (CJD). The E219K polymorphism found on the allele of the E200K mutation may have influenced the characteristic clinical course of our patient that differed from that of typical E200K genetic CJD.

Translated title of the contributionGenetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course
Original languageJapanese
Pages (from-to)682-687
Number of pages6
JournalClinical Neurology
Volume58
Issue number11
DOIs
Publication statusPublished - 2018

ASJC Scopus subject areas

  • Clinical Neurology

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