TY - JOUR
T1 - Familial Creutzfeldt-Jakob disease with a V180I mutation
T2 - comparative analysis with pathological findings and diffusion-weighted images.
AU - Mutsukura, Kazuo
AU - Satoh, Katsuya
AU - Shirabe, Susumu
AU - Tomita, Itsuro
AU - Fukutome, Takayasu
AU - Morikawa, Minoru
AU - Iseki, Masachika
AU - Sasaki, Kensuke
AU - Shiaga, Yusei
AU - Kitamoto, Tetsuyuki
AU - Eguchi, Katsumi
PY - 2009
Y1 - 2009
N2 - BACKGROUND: Diffusion-weighted imaging (DWI) has been reported to be a useful technique for diagnosing Creutzfeldt-Jakob disease (CJD). The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings. METHODS: A retrospective analysis of 3 patients with V180I was performed. Cerebrospinal fluid (CSF) analysis, brain MRI, single-photon emission computed tomography (SPECT), and magnetic resonance spectroscopy (MRS) were included. CSF was analyzed for biochemical markers, and each patient underwent brain MRI, SPECT, and MRS analysis. A brain biopsy from the frontal cortex, which corresponded to the area of increased DWI signals, was utilized for neuropathological analysis. RESULTS: CSF analysis results revealed elevated total tau protein and the absence of 14-3-3 protein, as well as decreased concentrations of neuron-specific enolase, S100 protein, and prostaglandin E(2). All patients presented with unique MRI features. Brain biopsy showed severe spongiform morphology, but comparatively preserved neurons and mild astrocytic gliosis. Accumulations of PrP(Sc) were not detected using the 3F4 antibody, and microglial activation was subtle. SPECT revealed hypoperfusion throughout both hemispheres. MRS revealed a reduced N-acetyl aspartate/creatine ratio. CONCLUSION: Results from this study suggested that increased DWI signals could reflect severe spongiform changes in CJD180 patients.
AB - BACKGROUND: Diffusion-weighted imaging (DWI) has been reported to be a useful technique for diagnosing Creutzfeldt-Jakob disease (CJD). The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings. METHODS: A retrospective analysis of 3 patients with V180I was performed. Cerebrospinal fluid (CSF) analysis, brain MRI, single-photon emission computed tomography (SPECT), and magnetic resonance spectroscopy (MRS) were included. CSF was analyzed for biochemical markers, and each patient underwent brain MRI, SPECT, and MRS analysis. A brain biopsy from the frontal cortex, which corresponded to the area of increased DWI signals, was utilized for neuropathological analysis. RESULTS: CSF analysis results revealed elevated total tau protein and the absence of 14-3-3 protein, as well as decreased concentrations of neuron-specific enolase, S100 protein, and prostaglandin E(2). All patients presented with unique MRI features. Brain biopsy showed severe spongiform morphology, but comparatively preserved neurons and mild astrocytic gliosis. Accumulations of PrP(Sc) were not detected using the 3F4 antibody, and microglial activation was subtle. SPECT revealed hypoperfusion throughout both hemispheres. MRS revealed a reduced N-acetyl aspartate/creatine ratio. CONCLUSION: Results from this study suggested that increased DWI signals could reflect severe spongiform changes in CJD180 patients.
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U2 - 10.1159/000254842
DO - 10.1159/000254842
M3 - Article
C2 - 20051687
AN - SCOPUS:73249120002
VL - 28
SP - 550
EP - 557
JO - Dementia
JF - Dementia
SN - 1420-8008
IS - 6
ER -