TY - JOUR
T1 - Preserved regional cerebral blood flow in the occipital cortices, brainstem, and cerebellum of patients with V180I-129M genetic Creutzfeldt-Jakob disease in serial SPECT studies
AU - Hayashi, Yuichi
AU - Yoshikura, Nobuaki
AU - Takekoshi, Akira
AU - Yamada, Megumi
AU - Asano, Takahiko
AU - Kimura, Akio
AU - Satoh, Katsuya
AU - Kitamoto, Tetsuyuki
AU - Inuzuka, Takashi
N1 - Funding Information:
We thank Dr. Masahiro Waza, Department of Neurology, Kakamigahara Rehabilitation Hospital for clinical information. This work was supported by grants-in-aid from the Research Committee of Prion Disease and Slow Virus infection (for T.K. and K.S.), and Prion Disease Surveillance ( H26, Nanbyo-Shitei 002 ) (for T.K., K.S., and T.I.), the Ministry of Health, Labour and Welfare of Japan . Conflicts of interest: none.
Publisher Copyright:
© 2016 Elsevier B.V.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2016/11/15
Y1 - 2016/11/15
N2 - Creutzfeldt-Jakob disease (CJD) with a causative point mutation of valine to isoleucine at codon 180 (V180I) is one of the major types of genetic CJD (gCJD) in Japan. V180I gCJD is rarely accompanied by a family history, and its clinical characteristics include late-onset, long disease duration, and edematous cortical hyperintensity in diffusion, fluid attenuate inversion and T2-weighted MRI. We performed serial imaging with single-photon emission computed tomography (SPECT) and MRI in three V180I gCJD cases over long-term observation. All cases were characterized by progressive dementia, parkinsonism, and the absence of cerebellar signs or cortical visual dysfunction in their clinical courses. Moreover, during the end-stage, SPECT findings showed preserved regional cerebral blood flow (rCBF) in the occipital cortices, brainstem, and cerebellum. Similarly, no apparent atrophy or increased signal intensities were observed in MRI images of the occipital and cerebellar regions. In conclusion, we report a decrease in rCBF predominantly in the frontal and temporal cortices during the early-stage, which became more widespread as the disease progressed. Importantly, rCBF was preserved in the occipital cortices, brainstem, and cerebellar regions until the end-stage, which may be distinct to V180I gCJD cases.
AB - Creutzfeldt-Jakob disease (CJD) with a causative point mutation of valine to isoleucine at codon 180 (V180I) is one of the major types of genetic CJD (gCJD) in Japan. V180I gCJD is rarely accompanied by a family history, and its clinical characteristics include late-onset, long disease duration, and edematous cortical hyperintensity in diffusion, fluid attenuate inversion and T2-weighted MRI. We performed serial imaging with single-photon emission computed tomography (SPECT) and MRI in three V180I gCJD cases over long-term observation. All cases were characterized by progressive dementia, parkinsonism, and the absence of cerebellar signs or cortical visual dysfunction in their clinical courses. Moreover, during the end-stage, SPECT findings showed preserved regional cerebral blood flow (rCBF) in the occipital cortices, brainstem, and cerebellum. Similarly, no apparent atrophy or increased signal intensities were observed in MRI images of the occipital and cerebellar regions. In conclusion, we report a decrease in rCBF predominantly in the frontal and temporal cortices during the early-stage, which became more widespread as the disease progressed. Importantly, rCBF was preserved in the occipital cortices, brainstem, and cerebellar regions until the end-stage, which may be distinct to V180I gCJD cases.
KW - End-stage
KW - MRI
KW - SPECT
KW - V180I genetic Creutzfeldt-Jakob disease
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U2 - 10.1016/j.jns.2016.09.043
DO - 10.1016/j.jns.2016.09.043
M3 - Article
C2 - 27772745
AN - SCOPUS:84988662568
VL - 370
SP - 145
EP - 151
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
ER -