Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

HomeStrokeVol. 53, No. 10Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Free AccessCase ReportPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessCase ReportPDF/EPUBCerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Amado Jimenez-Ruiz, Juan Carlos Ayala-Alvarez and Jose Luis Ruiz-Sandoval Amado Jimenez-RuizAmado Jimenez-Ruiz Correspondence to: Amado Jimenez-Ruiz, MD, Hospital No. 278, Centro Barranquitas, 44280, Guadalajara, Jalisco. Email E-mail Address: [email protected] https://orcid.org/0000-0002-0257-3107 Stroke Clinic, Department of Neurology Hospital Civil de Guadalajara Fray Antonio Alcalde Guadalajara, Jalisco. Search for more papers by this author , Juan Carlos Ayala-AlvarezJuan Carlos Ayala-Alvarez https://orcid.org/0000-0003-4966-4708 Stroke Clinic, Department of Neurology Hospital Civil de Guadalajara Fray Antonio Alcalde Guadalajara, Jalisco. Search for more papers by this author and Jose Luis Ruiz-SandovalJose Luis Ruiz-Sandoval https://orcid.org/0000-0002-0482-7916 Stroke Clinic, Department of Neurology Hospital Civil de Guadalajara Fray Antonio Alcalde Guadalajara, Jalisco. Search for more papers by this author Originally published24 Aug 2022https://doi.org/10.1161/STROKEAHA.122.039738Stroke. 2022;53:e444–e445Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: August 24, 2022: Ahead of Print Key PointCADASIL is rare but important cause of stroke in the young. We report a classic case with highly characteristic imaging findings confirmed with genetic testing.We evaluated a 64-year-old female with a 10-year history of cognitive decline, headaches, seizures, and loss of independence. She had a history of 6 direct family members who had died from ischemic stroke and progressive cognitive impairment at an early age (Figure [A]).Download figureDownload PowerPointFigure. History of affected relatives. A and B, Magnetic resonance imaging with fluid-attenuated inversion recovery (FLAIR) shows subcortical white matter and periventricular, small vessel disease with confluent anterior temporal pole involvement. The cerebral cortex is notably uninvolved.Physical examination was unremarkable. Montreal Cognitive Assessment (MoCA) revealed severe cognitive impairment (amnestic multi-domain). Magnetic resonance imaging showed extensive, bilateral white matter disease with temporal lobe anterior pole involvement and chronic cavitated lacunar subcortical infarctions with cortical sparing (Figure [B]).We suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The diagnosis was confirmed by genetic testing with a positive mutation in the Notch3 gene (c.437G>A (p.Cys146Tyr).CADASIL is an autosomal dominant white matter disease characterized by recurrent small vessel disease and progressive cognitive decline. Patients may also present with migraine and other neurological symptoms.1–3 This disease exemplifies a rare cause of stroke in the young with no traditional cerebrovascular risk factors.4Article InformationDisclosures None.FootnotesCorrespondence to: Amado Jimenez-Ruiz, MD, Hospital No. 278, Centro Barranquitas, 44280, Guadalajara, Jalisco. Email dr.amadojimenez@gmail.comReferences1. Manini A, Pantoni L. CADASIL from bench to bedside: disease models and novel therapeutic approaches.Mol Neurobiol. 2021; 58:2558–2573. doi: 10.1007/s12035-021-02282-4CrossrefMedlineGoogle Scholar2. Jouvent E, Duering M, Chabriat H. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: lessons from neuroimaging.Stroke. 2020; 51:21–28. doi: 10.1161/STROKEAHA.119.024152LinkGoogle Scholar3. Gladstone JP, Dodick DW. Migraine and cerebral white matter lesions: when to suspect cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Neurologist. 2005; 11:19–29. doi: 10.1097/01.nrl.0000149973.61810.21CrossrefGoogle Scholar4. Dong Y, Hassan A, Zhang Z, Huber D, Dalageorgou C, Markus HS. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis.Stroke. 2003; 34:203–205. doi: 10.1161/01.str.0000048162.16852.88LinkGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails October 2022Vol 53, Issue 10 Advertisement Article InformationMetrics © 2022 American Heart Association, Inc.https://doi.org/10.1161/STROKEAHA.122.039738PMID: 36000397 Originally publishedAugust 24, 2022 PDF download Advertisement SubjectsGeneticsIschemic StrokeMagnetic Resonance Imaging (MRI)