{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T16:13:37Z","timestamp":1784304817938,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T00:00:00Z","timestamp":1773619200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24wm0425019"],"award-info":[{"award-number":["JP24wm0425019"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24dk0207074h0001"],"award-info":[{"award-number":["JP24dk0207074h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Fragile X\u2010associated tremor\/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55\u2013200 CGG repeat) in the fragile X mental retardation (\n                    <jats:italic>FMR1<\/jats:italic>\n                    ) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was a 74\u2010year\u2010old man with a family history of fragile X syndrome at the time of death. The clinical features included postural tremors, mild cognitive decline, and ataxia. Magnetic resonance imaging (MRI) showed a high\u2010intensity lesion in the bilateral middle cerebellar peduncles and deep white matter around the ventricle on T2\u2010weighted images. A gene analysis revealed that the patient had a pre\u2010mutation of the CGG expansion (83 CGG repeats) in the\n                    <jats:italic>FMR1<\/jats:italic>\n                    gene. Neuropathologically, ubiquitin\u2010 and p62\u2010positive intranuclear inclusions were widely present, especially in the hippocampus. The middle cerebellar peduncle (MCP), where the \u201cMCP sign\u201d was seen on MRI, showed marked spongiosis with accompanied demyelination and axon loss, and a similar pathology was seen in the cerebral and cerebellar white matter. In an electron microscopy study, intranuclear inclusions were found to consist of a non\u2010membrane\u2010bound filamentous material. The clinical, MRI, and neuropathological findings were similar to those of neuronal intranuclear inclusion disease. Awareness of the disease is gradually increasing, and the number of autopsy cases is likely to increase, contributing to the elucidation of the pathology and development of treatments.\n                  <\/jats:p>","DOI":"10.1111\/neup.70053","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:21:19Z","timestamp":1773724879000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["An Autopsy Case With Fragile X\u2010Associated Tremor\/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System"],"prefix":"10.1111","volume":"46","author":[{"given":"Ayako","family":"Shioya","sequence":"first","affiliation":[{"name":"Department of Neurology, Division of Clinical Medicine, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Clinical Medicine, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taiki","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Noguchi","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Tamaoka","sequence":"additional","affiliation":[{"name":"Department of Neurology Tsukuba Memorial Hospital  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9974-8638","authenticated-orcid":false,"given":"Yuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Institute for Geriatrics and Gerontology  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.1.127"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01323-x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-016-0776-y"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2021.11.006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7ff"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.49.3258"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf184"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20753"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh683"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2012.01329.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21493"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx156"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-021-02425-z"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2020.600840"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.82"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.03.026"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-014-0162-2"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0458-z"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0459-y"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww249"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2006.11.097"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0860-9"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2008.00948.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51151"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci13060955"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200132"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.70053","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/neup.70053","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.70053","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T08:04:11Z","timestamp":1777017851000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.70053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,16]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/neup.70053"],"URL":"https:\/\/doi.org\/10.1111\/neup.70053","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,16]]},"assertion":[{"value":"2025-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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