A case of Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180

Takeshi Tanaka; Ikuo Kinoshita; Yuji Saitoh; Katsuya Satoh; Yoshihiro Nishiura; Susumu Shirabe; Tetsuyuki Kitamoto

A case of Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180

Takeshi Tanaka, Ikuo Kinoshita, Yuji Saitoh, Katsuya Satoh, Yoshihiro Nishiura, Susumu Shirabe, Tetsuyuki Kitamoto

MED - United Centers for Advanced Research and Translational Medicine (ART)

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

A 67-year-old woman was admitted to our hospital with progressive aphasia. There was no family history of similar diseases or any history of dura transplantation. Cranial magnetic resonance imaging (MRI) showed high signal areas in the temporal and parietal cortex predominantly on the left side on both T2-weighted images and on diffusion-weighted images. There were no periodic synchronous discharges observed on the electroencephalogram. As prion protein gene codon 180 point mutation (Val/Ile) was detected, we diagnosed her as having Creutzfeldt-Jakob disease (CJD). The characteristics of CJD of this type differ from those of sporadic CJD. To date, few papers on CJD with point mutation of codon 180 have been reported from Japan.

Original language	English
Pages (from-to)	1025-1028
Number of pages	4
Journal	Brain and Nerve
Volume	56
Issue number	12
Publication status	Published - 2004 Dec 1

Keywords

Codon 180
Creutzfeldt-Jakob disease
MRI
Point mutation
Prion protein

ASJC Scopus subject areas

Neuroscience(all)

Cite this

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abstract = "A 67-year-old woman was admitted to our hospital with progressive aphasia. There was no family history of similar diseases or any history of dura transplantation. Cranial magnetic resonance imaging (MRI) showed high signal areas in the temporal and parietal cortex predominantly on the left side on both T2-weighted images and on diffusion-weighted images. There were no periodic synchronous discharges observed on the electroencephalogram. As prion protein gene codon 180 point mutation (Val/Ile) was detected, we diagnosed her as having Creutzfeldt-Jakob disease (CJD). The characteristics of CJD of this type differ from those of sporadic CJD. To date, few papers on CJD with point mutation of codon 180 have been reported from Japan.",

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T1 - A case of Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180

AU - Tanaka, Takeshi

AU - Kinoshita, Ikuo

AU - Saitoh, Yuji

AU - Satoh, Katsuya

AU - Nishiura, Yoshihiro

AU - Shirabe, Susumu

AU - Kitamoto, Tetsuyuki

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N2 - A 67-year-old woman was admitted to our hospital with progressive aphasia. There was no family history of similar diseases or any history of dura transplantation. Cranial magnetic resonance imaging (MRI) showed high signal areas in the temporal and parietal cortex predominantly on the left side on both T2-weighted images and on diffusion-weighted images. There were no periodic synchronous discharges observed on the electroencephalogram. As prion protein gene codon 180 point mutation (Val/Ile) was detected, we diagnosed her as having Creutzfeldt-Jakob disease (CJD). The characteristics of CJD of this type differ from those of sporadic CJD. To date, few papers on CJD with point mutation of codon 180 have been reported from Japan.

AB - A 67-year-old woman was admitted to our hospital with progressive aphasia. There was no family history of similar diseases or any history of dura transplantation. Cranial magnetic resonance imaging (MRI) showed high signal areas in the temporal and parietal cortex predominantly on the left side on both T2-weighted images and on diffusion-weighted images. There were no periodic synchronous discharges observed on the electroencephalogram. As prion protein gene codon 180 point mutation (Val/Ile) was detected, we diagnosed her as having Creutzfeldt-Jakob disease (CJD). The characteristics of CJD of this type differ from those of sporadic CJD. To date, few papers on CJD with point mutation of codon 180 have been reported from Japan.

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KW - Point mutation

KW - Prion protein

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A case of Creutzfeldt-Jakob disease with a point mutation of prion protein at codon 180

Abstract

Keywords

ASJC Scopus subject areas

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