Creutzfeldt-jakob disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging

Yuko Amano, Noriyuki Kimura, Takuya Hanaoka, Yasuhiro Aso, Teruyuki Hirano, Hiroyuki Murai, Katsuya Satoh, Etsuro Matsubara

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Here we report a genetically confirmed case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting atypical magnetic resonance imaging findings. The present case exhibited an acute onset and lateralized neurologic signs, and progressive cognitive impairment. No myoclonus or periodic synchronous discharges on electroencephalography were observed. Diffusion-weighted images revealed areas of high signal intensity in the right frontal and temporal cortices at onset that extended to the whole cortex and basal ganglia of the right cerebral hemisphere at 3 months. Although the cerebrospinal fluid (CSF) was initially negative for neuron specific enolase, tau protein, 14–3–3 protein, and abnormal prion protein, the CSF was positive for these brain-derived proteins at 3 months after onset.

Original languageEnglish
Pages (from-to)29-33
Number of pages5
JournalPrion
Volume9
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

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Creutzfeldt-Jakob Syndrome
Magnetic resonance
Codon
Cerebrospinal Fluid
Magnetic Resonance Imaging
Imaging techniques
tau Proteins
Mutation
Myoclonus
Phosphopyruvate Hydratase
Cerebrum
Frontal Lobe
Temporal Lobe
Neurologic Manifestations
Basal Ganglia
Genes
Cerebrospinal fluid
Cerebrospinal Fluid Proteins
Electroencephalography
Proteins

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Infectious Diseases

Cite this

Creutzfeldt-jakob disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging. / Amano, Yuko; Kimura, Noriyuki; Hanaoka, Takuya; Aso, Yasuhiro; Hirano, Teruyuki; Murai, Hiroyuki; Satoh, Katsuya; Matsubara, Etsuro.

In: Prion, Vol. 9, No. 1, 01.01.2015, p. 29-33.

Research output: Contribution to journalArticle

Amano, Yuko ; Kimura, Noriyuki ; Hanaoka, Takuya ; Aso, Yasuhiro ; Hirano, Teruyuki ; Murai, Hiroyuki ; Satoh, Katsuya ; Matsubara, Etsuro. / Creutzfeldt-jakob disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging. In: Prion. 2015 ; Vol. 9, No. 1. pp. 29-33.
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