{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T21:53:02Z","timestamp":1723413182131},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T00:00:00Z","timestamp":1358294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2013,10]]},"abstract":"A 68\u2010year\u2010old Japanese man gradually showed abnormal behavior and gait disturbance with bradykinesia. Slowly progressive dementia, including memory disturbance and disorientation, was also observed. Cerebral cortical hyperintensity on diffusion\u2010weighted MRI<\/jats:styled-content> was observed 6 months after onset. The patient progressed to an akinetic mutism state with mild myoclonus, and atypical periodic sharp\u2010wave complexes were observed by electroencephalogram 13 months after onset. He was clinically suspected of having atypical CJD<\/jats:styled-content> and died after 19 months total disease duration. The brain weighed 1160\u2009g and showed mild atrophy of the cerebrum and cerebellum with ventricular dilatation. Spongiform changes with varying vacuole size and gliosis was extensive in the cerebral cortex and basal ganglia. Neuron loss in the cerebral cortex, basal ganglia and thalamus was relatively mild. The cerebellum showed mild spongiform changes of the molecular layer and mild neuron loss in the P<\/jats:styled-content>urkinje cell layer. PrP<\/jats:styled-content> immunostaining showed mainly coarse\u2010type combined with diffuse synaptic\u2010type PrP<\/jats:styled-content> deposition in the cerebral gray matter. Some perivacuolar\u2010type PrP<\/jats:styled-content> deposition was also present. Numerous plaque\u2010type PrP<\/jats:styled-content> depositions were observed in the molecular layer of the cerebellum. Analysis of the PrP<\/jats:styled-content> gene revealed a methionine\u2010to\u2010arginine (Met\u2010to\u2010Arg<\/jats:styled-content>) substitution at codon 232 (M232R<\/jats:styled-content>) with Met homozygosity at codon 129. Western blot analysis of protease\u2010resistant PrP<\/jats:styled-content> indicated type 2 dominant PrP<\/jats:styled-content> combined with type 1. Genetic CJD<\/jats:styled-content> with M232R<\/jats:styled-content> substitution in the PrP<\/jats:styled-content> gene has only been reported in J<\/jats:styled-content>apan. Although two clinical phenotypes (rapid\u2010type and slow\u2010type) were suggested in the M232R CJD<\/jats:styled-content> cases (despite the presence of the same PrP<\/jats:styled-content> genotype), the pathological and molecular backgrounds have not been well understood because there have only been a few autopsied case reports. This is the first case report of M232R CJD<\/jats:styled-content> presenting with 1\u2009+\u20092 PrP<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/neup.12013","type":"journal-article","created":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T10:43:27Z","timestamp":1358333007000},"page":"568-575","source":"Crossref","is-referenced-by-count":8,"title":["An autopsied case of C<\/scp>reutzfeldt\u2010J<\/scp>akob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein"],"prefix":"10.1111","volume":"33","author":[{"given":"Yasushi","family":"Iwasaki","sequence":"first","affiliation":[{"name":"Department of Neuropathology Institute for Medical Science of Aging Aichi Medical University Nagakute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuji","family":"Yokoi","sequence":"additional","affiliation":[{"name":"Department of Neurology General Aoyama 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