{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T14:45:15Z","timestamp":1702305915746},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"07","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fortschr Neurol Psychiatr"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Mutationen des humanen VCP-Gens, welches f\u00fcr das Valosin-enthaltende Protein (engl. Valosin Containing Protein; Synonyme: p97, TER ATPase) kodiert, sind mit verschiedenen multisystemischen Proteinaggregationserkrankungen assoziiert. Wir stellen einen Patienten vor, der an einer progressiven Myopathie und beginnenden kognitiven Defiziten leidet. In der diagnostischen Muskelbiospie zeigte sich das Bild einer Einschlussk\u00f6rpermyopathie mit Proteinaggregaten. Die kraniale MRT- und F18-FDG-PET\/CT Bildgebung erbrachte den Nachweis einer deutlichen fronto-temporalen Atrophie sowie einer fronto-temporalen Hypoperfusion. Basierend auf der klinischen Symptomatik des Patienten erfolgte eine molekulargenetische Diagnostik, die eine heterozygote c.277C&gt;T (p.Arg93Cys) Mutation des VCP-Gens detektierte, so dass abschlie\u00dfend die Diagnose einer IBMPFD (engl. Inclusion Body Myopathie with Paget Disease of the Bones and Fronto-temporal Dementia) gestellt werden konnte.<\/jats:p>","DOI":"10.1055\/s-0044-101033","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T18:50:42Z","timestamp":1532112642000},"page":"434-438","source":"Crossref","is-referenced-by-count":1,"title":["Einschlussk\u00f6rpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie"],"prefix":"10.1055","volume":"86","author":[{"given":"David","family":"Mengel","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Neurologie, Philipps-Universit\u00e4t Marburg, Marburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damiano","family":"Librizzi","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Nuklearmedizin, Philipps-Universit\u00e4t Marburg, Marburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institut, Klinik f\u00fcr Neurologie, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, M\u00fcnchen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Gl\u00e4ser","sequence":"additional","affiliation":[{"name":"Genetikum, Neu-Ulm"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph S.","family":"Clemen","sequence":"additional","affiliation":[{"name":"Heimer-Institut f\u00fcr Muskelforschung, Neurologische Klinik, Berufsgenossenschaftliches Universit\u00e4tsklinikum Bergmannsheil, Ruhr-Universit\u00e4t Bochum, Bochum"},{"name":"Zentrum f\u00fcr Biochemie, Institut f\u00fcr Biochemie I, Medizinische Fakult\u00e4t, Universit\u00e4t zu K\u00f6ln, K\u00f6ln"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Dodel","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Neurologie, Philipps-Universit\u00e4t Marburg, Marburg"},{"name":"Lehrstuhl f\u00fcr Geriatrie, Universit\u00e4tsklinikum Essen, Geriatriezentrum Haus Berge, Contilia GmbH, Essen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Neuropathologie, Universit\u00e4tsklinikum Erlangen, Erlangen"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,7,20]]},"container-title":["Fortschritte der Neurologie \u00b7 Psychiatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0044-101033.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T18:50:54Z","timestamp":1532112654000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0044-101033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":0,"journal-issue":{"issue":"07","published-online":{"date-parts":[[2018,7,20]]},"published-print":{"date-parts":[[2018,7]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0044-101033","relation":{},"ISSN":["0720-4299","1439-3522"],"issn-type":[{"value":"0720-4299","type":"print"},{"value":"1439-3522","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7]]}}}