{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T23:10:04Z","timestamp":1751584204900,"version":"3.41.0"},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"07\/08","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fortschr Neurol Psychiatr"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Depressive St\u00f6rungen sind sehr h\u00e4ufige psychische Erkrankungen, die normalerweise gut behandelbar sind. Besondere Aufmerksamkeit ist jedoch erforderlich, wenn sich die depressive Symptomatik trotz leitliniengerechter Therapie nicht verbessert und hirnstrukturelle Ver\u00e4nderungen in der Bildgebung feststellbar sind. Wir berichten \u00fcber einen humangenetisch neu diagnostizierten 63-j\u00e4hrigen Patienten mit zerebraler autosomal-dominanter Arteriopathie mit subkortikalen Infarkten und Leukenzephalopathie (CADASIL) mit einem zwei Jahrzehnte langen Verlauf schwerer affektiver Symptome ohne klassische somatische CADASIL-Krankheitsmerkmale, obwohl eine pathogene Variante in der EGFr-4-Dom\u00e4ne des NOTCH3-Proteins gefunden wurde. CADASIL ist eine seltene Erbkrankheit der kleinen Hirngef\u00e4\u00dfe, die durch Mutationen im NOTCH3-Gen verursacht wird. Die Krankheit beginnt typischerweise im jungen Erwachsenenalter und ist durch isch\u00e4mische Schlaganf\u00e4lle, migr\u00e4neartige Kopfschmerzen, psychiatrische St\u00f6rungen und kognitiven Verfall gekennzeichnet. Pathogene Varianten in den NOTCH3 EGFr-Dom\u00e4nen 1-6 sind mit einem schwereren somatischen Ph\u00e4notyp verbunden. Unser Fallbericht unterstreicht die ph\u00e4notypische Heterogenit\u00e4t von CADASIL mit ausschlie\u00dflich psychiatrischen Symptomen trotz Mutation in der EGFr-Dom\u00e4ne 4; daher sollte CADASIL bei Vorliegen von affektiven St\u00f6rungen, fehlendem Ansprechen auf Antidepressiva und typischen MR-Ver\u00e4nderungen in Betracht gezogen werden. <\/jats:p>","DOI":"10.1055\/a-2512-7605","type":"journal-article","created":{"date-parts":[[2025,2,8]],"date-time":"2025-02-08T01:38:14Z","timestamp":1738978694000},"page":"306-310","source":"Crossref","is-referenced-by-count":0,"title":["Therapierefrakt\u00e4re chronische Depression bei einem CADASIL-Patienten mit k\u00f6rperlich asymptomatischem Verlauf: ein Fallbericht"],"prefix":"10.1055","volume":"93","author":[{"given":"Sebastian","family":"Wurthmann","sequence":"additional","affiliation":[{"name":"LVR-Universit\u00e4tsklinik Essen, Klinik f\u00fcr Psychiatrie und Psychotherapie Essen, Essen, Germany"},{"name":"Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Universit\u00e4t Duisburg-Essen, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Kastrup","sequence":"additional","affiliation":[{"name":"Philippusstift Essen, Klinik f\u00fcr Neurologie und klinische Neurophysiologie, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelius","family":"Wurthmann","sequence":"additional","affiliation":[{"name":"Philippusstift Essen, Klinik f\u00fcr Psychiatrie, Psychotherapie und Psychosomatische Medizin, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"Scherbaum","sequence":"additional","affiliation":[{"name":"LVR-Universit\u00e4tsklinik Essen, Klinik f\u00fcr Psychiatrie und Psychotherapie Essen, Essen, Germany"},{"name":"Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Universit\u00e4t Duisburg-Essen, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrik","family":"Roser","sequence":"additional","affiliation":[{"name":"LVR-Universit\u00e4tsklinik Essen, Klinik f\u00fcr Psychiatrie und Psychotherapie Essen, Essen, Germany"},{"name":"Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Universit\u00e4t Duisburg-Essen, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1007\/s00415-014-7533-2","article-title":"CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients","volume":"262","author":"S Bianchi","year":"2015","journal-title":"J Neurol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1212\/WNL.0b013e31824d586c","article-title":"The minimum prevalence of CADASIL in northeast England","volume":"78","author":"S K Narayan","year":"2012","journal-title":"Neurology."},{"key":"ref3","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1002\/acn3.344","article-title":"Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL","volume":"3","author":"J W Rutten","year":"2016","journal-title":"Ann Clin Transl Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1161\/STROKEAHA.119.028840","article-title":"Global assessment of Mendelian stroke genetic prevalence in 101 635 individuals from 7 ethnic groups","volume":"51","author":"N Grami","year":"2020","journal-title":"Stroke."},{"key":"ref5","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/S1474-4422(09)70127-9","article-title":"CADASIL","author":"H Chabriat","year":"2009","journal-title":"The Lancet Neurology"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1161\/STROKEAHA.122.039325","article-title":"Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes","volume":"53","author":"R J Hack","year":"2022","journal-title":"Stroke"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1002\/ana.410440506","article-title":"The phenotypic spectrum of CADASIL: clinical findings in 102 cases","volume":"44","author":"M Dichgans","year":"1998","journal-title":"Ann Neurol"},{"key":"ref8","first-page":"100043","article-title":"Cognition, mood and behavior in CADASIL","volume":"3","author":"H Chabriat","year":"2022","journal-title":"Cereb Circ Cogn Behav"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.jad.2010.07.020","article-title":"Affective temperamental profiles are associated with white matter hyperintensity and suicidal risk in patients with mood disorders","volume":"129","author":"G Serafini","year":"2011","journal-title":"J. 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Disord"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1161\/STROKEAHA.116.015750","article-title":"Predictors and Clinical Impact of Incident Lacunes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy","volume":"48","author":"Y Ling","year":"2017","journal-title":"Stroke"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1161\/STROKEAHA.120.030664","article-title":"Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prevalence, Clinical and Neuroimaging Features and Risk Factors","volume":"52","author":"Y C Liao","year":"2021","journal-title":"Stroke"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/s41436-018-0088-3","article-title":"The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant","volume":"21","author":"J Rutten","year":"2019","journal-title":"Genet Med"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.31887\/DCNS.2007.9.2\/hchabriat","article-title":"Neuropsychiatric manifestations in CADASIL","volume":"9","author":"H Chabriat","year":"2007","journal-title":"Dialogues Clin Neurosci"}],"container-title":["Fortschritte der Neurologie \u00b7 Psychiatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2512-7605.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T22:34:37Z","timestamp":1751582077000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2512-7605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,7]]},"references-count":13,"journal-issue":{"issue":"07\/08","published-online":{"date-parts":[[2025,7,3]]},"published-print":{"date-parts":[[2025,7]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2512-7605","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0720-4299","1439-3522"],"issn-type":[{"type":"print","value":"0720-4299"},{"type":"electronic","value":"1439-3522"}],"subject":[],"published":{"date-parts":[[2025,2,7]]}}}