{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T04:56:55Z","timestamp":1790312215685,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,7]],"date-time":"2014-01-07T00:00:00Z","timestamp":1389052800000},"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":[[2014,6]]},"abstract":"<jats:p>Multiple system atrophy (<jats:styled-content style=\"fixed-case\">MSA<\/jats:styled-content>) is an oligodendrogliopathy of presumably sporadic origin, characterized by prominent \u03b1\u2010synuclein inclusions with neuronal multisystem degeneration, although a few <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>endelian pedigrees have been reported. Here we report two familial cases of <jats:styled-content style=\"fixed-case\">MSA<\/jats:styled-content> of unknown genetic background. One patient was diagnosed as a possible <jats:styled-content style=\"fixed-case\">MSA<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> (cerebellar dysfuntion) case, and the other as clinically possible <jats:styled-content style=\"fixed-case\">MSA<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content> (parkinsonism), which turned out to be definite <jats:styled-content style=\"fixed-case\">MSA<\/jats:styled-content>, based on a detailed autopsy. The neuropathology showed extensive deposition of \u03b1\u2010synuclein in the glia as well as in the neurons located in the cerebral cortices and hippocampal systems, although neither multiplication of the <jats:italic><jats:styled-content style=\"fixed-case\">SNCA<\/jats:styled-content><\/jats:italic> gene or mutations in <jats:italic><jats:styled-content style=\"fixed-case\">COQ2<\/jats:styled-content><\/jats:italic> gene were identified in the family concerned.<\/jats:p>","DOI":"10.1111\/neup.12092","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T03:27:04Z","timestamp":1389151624000},"page":"309-313","source":"Crossref","is-referenced-by-count":33,"title":["Definite familial multiple system atrophy with unknown genetics"],"prefix":"10.1111","volume":"34","author":[{"given":"Kyoko","family":"Itoh","sequence":"first","affiliation":[{"name":"Department of Pathology &amp; Applied Neurobiology Graduate School of Medical Sciences Kyoto Prefectural University of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Kasai","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences Kyoto Prefectural University of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences Kyoto Prefectural University of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozo","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences Kyoto Prefectural University of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuko","family":"Mizuta","sequence":"additional","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences Kyoto Prefectural University of Medicine  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; 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