title: 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.
abstract: 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.
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan. Electronic address: hayashiy@gifu-u.ac.jp.
authors: Yuichi
authors: Y
authors: Hayashi
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan.
authors: Nobuaki
authors: N
authors: Yoshikura
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan.
authors: Akira
authors: A
authors: Takekoshi
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan.
authors: Megumi
authors: M
authors: Yamada
authors: Department of Radiology, Gifu University Graduate School of Medicine, Japan.
authors: Takahiko
authors: T
authors: Asano
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan.
authors: Akio
authors: A
authors: Kimura
authors: Department of Locomotive Rehabilitation Sciences, Nagasaki University Graduate School of Medicine, Japan.
authors: Katsuya
authors: K
authors: Satoh
authors: Division of CJD Science and Technology, Department of Prion Research, Center for Translational and Advanced Animal Research on Human Diseases, Tohoku University School of Medicine, Japan.
authors: Tetsuyuki
authors: T
authors: Kitamoto
authors: Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, Japan.
authors: Takashi
authors: T
authors: Inuzuka
mesh_terms: D000368:Aged; D001931:Brain Mapping; D001933:Brain Stem / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002531:Cerebellum / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002560:Cerebrovascular Circulation / Q000502:physiology; D007562:Creutzfeldt-Jakob Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006801:Humans; D009778:Occipital Lobe / Q000000981:diagnostic imaging* / Q000503:physiopathology; D017354:Point Mutation; D015899:Tomography, Emission-Computed, Single-Photon
keywords: End-stage; MRI; SPECT; V180I genetic Creutzfeldt-Jakob disease