{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T00:24:13Z","timestamp":1765758253095,"version":"3.40.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dement Geriatr Cogn Disord"],"published-print":{"date-parts":[[2009]]},"abstract":"<i>Background:<\/i> 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. <i>Methods:<\/i> 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. <i>Results:<\/i> 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<sub>2<\/sub>. All patients presented with unique MRI features. Brain biopsy showed severe spongiform morphology, but comparatively preserved neurons and mild astrocytic gliosis. Accumulations of PrP<sup>Sc<\/sup> 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. <i>Conclusion:<\/i> Results from this study suggested that increased DWI signals could reflect severe spongiform changes in CJD180 patients.<\/jats:p>","DOI":"10.1159\/000254842","type":"journal-article","created":{"date-parts":[[2009,12,30]],"date-time":"2009-12-30T15:24:23Z","timestamp":1262186663000},"page":"550-557","source":"Crossref","is-referenced-by-count":22,"title":["Familial Creutzfeldt-Jakob Disease with a V180I Mutation: Comparative Analysis with Pathological Findings and Diffusion-Weighted Images"],"prefix":"10.1159","volume":"28","author":[{"given":"Kazuo","family":"Mutsukura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuya","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susumu","family":"Shirabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itsuro","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Fukutome","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoru","family":"Morikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masachika","family":"Iseki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusei","family":"Shiaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuyuki","family":"Kitamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsumi","family":"Eguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,12,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-005-0020-1"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neulet.2006.08.008"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097%2FMNM.0b013e328013eb8b"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10571-006-9370-z"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410390613"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159%2F000095143"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3171%2FJNS%2F2008%2F109%2F10%2F0735"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3348%2Fkjr.2001.2.4.192"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.10195"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212%2FWNL.0b013e3181a18846"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1053%2Fcrad.2002.1080"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mri.2004.01.042"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jocn.2003.08.012"}],"container-title":["Dementia and Geriatric Cognitive Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/254842","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/254842","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:22:08Z","timestamp":1745443328000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000254842"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2010,2,1]]},"published-print":{"date-parts":[[2010,2,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000254842","archive":["Portico"],"relation":{},"ISSN":["1420-8008","1421-9824"],"issn-type":[{"type":"print","value":"1420-8008"},{"type":"electronic","value":"1421-9824"}],"subject":[],"published":{"date-parts":[[2009]]}}}