{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:21:23Z","timestamp":1792041683508,"version":"4.4.0"},"reference-count":5,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,16]],"date-time":"2021-10-16T00:00:00Z","timestamp":1634342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek family that presented with a CADASIL clinical and neuroimaging phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 65\u2010year\u2010old man was admitted with recurrent transient episodes of right leg numbness. The patient's medical history started at the age of 50\u00a0years with depression and behavioral disorders. His family history was positive for stroke (father), dementia (father and brother), migraine (daughter) and depression (father and daughter).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Neurological examination disclosed anomic aphasia with severely impaired cognitive status, and brisk reflexes. Brain computed tomography and magnetic resonance imaging showed CADASIL\u2010like leukoencephalopathy (hyperintense lesions in bilateral temporopolar area, external capsule, thalami, centrum semiovale and superior frontal regions) with occipital calcifications and cerebral microbleeds. Screen for variants in NOTCH3 gene was negative. Exome sequencing revealed a novel pathogenic mutation for hCAA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a novel amyloid precursor protein mutation which results in a CADASIL\u2010like clinical phenotype (progressive cognitive and motor decline, stroke, migraine and behavioral disorders) and CADASIL\u2010leukoencephalopathy coupled with occipital calcifications. Earlier recognition and swift hCAA diagnosis may prompt rational preventive and potential disease\u2010modifying interventions.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14981","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T20:21:42Z","timestamp":1634761302000},"page":"3866-3869","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3993-2545","authenticated-orcid":false,"given":"Klearchos","family":"Psychogios","sequence":"first","affiliation":[{"name":"Stroke Unit Metropolitan Hospital  Piraeus Greece"},{"name":"Second Department of Neurology School of Medicine \u201cAttikon\u201d University Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Xiromerisiou","sequence":"additional","affiliation":[{"name":"Department of Neurology Faculty of Medicine School of Health Sciences University Hospital of Larissa University of Thessaly  Larissa Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8317-6428","authenticated-orcid":false,"given":"Odysseas","family":"Kargiotis","sequence":"additional","affiliation":[{"name":"Stroke Unit Metropolitan Hospital  Piraeus Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apostolos","family":"Safouris","sequence":"additional","affiliation":[{"name":"Stroke Unit Metropolitan Hospital  Piraeus Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aidonio","family":"Fiolaki","sequence":"additional","affiliation":[{"name":"Stroke Unit Metropolitan Hospital  Piraeus 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Neurology School of Medicine \u201cAttikon\u201d University Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0640-3797","authenticated-orcid":false,"given":"Georgios","family":"Tsivgoulis","sequence":"additional","affiliation":[{"name":"Second Department of Neurology School of Medicine \u201cAttikon\u201d University Hospital National and Kapodistrian University of Athens  Athens Greece"},{"name":"Department of Neurology The University of Tennessee Health Science Center  Memphis TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14183"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70127-9"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.120.033286"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1009"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.118.021872"}],"container-title":["European Journal of 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