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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
Di Donato, Ilaria; Bianchi, Silvia; De Stefano, Nicola; Dichgans, Martin; Dotti, Maria Teresa; Duering, Marco; Jouvent, Eric; Korczyn, Amos D; Lesnik-Oberstein, Saskia A J; Malandrini, Alessandro; Markus, Hugh S; Pantoni, Leonardo; Penco, Silvana; Rufa, Alessandra; Sinanovic, Osman; Stojanov, Dragan; Federico, Antonio.
Afiliación
  • Di Donato I; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Bianchi S; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • De Stefano N; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Dichgans M; Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University LMU, Munich, Germany.
  • Dotti MT; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
  • Duering M; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Jouvent E; Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University LMU, Munich, Germany.
  • Korczyn AD; Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, F-75205, Paris, France.
  • Lesnik-Oberstein SA; Department of Neurology, AP-HP, Lariboisière Hospital, F-75475, Paris, France.
  • Malandrini A; DHU NeuroVasc Sorbonne Paris Cité, Paris, France.
  • Markus HS; Department of Neurology, Tel Aviv University, Ramat Aviv, 69978, Israel.
  • Pantoni L; Department of Clinical Genetics, K5-R Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands.
  • Penco S; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Rufa A; Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
  • Sinanovic O; NEUROFARBA Department, Neuroscience section, Largo Brambilla 3, 50134, Florence, Italy.
  • Stojanov D; Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
  • Federico A; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
BMC Med ; 15(1): 41, 2017 02 24.
Article en En | MEDLINE | ID: mdl-28231783
ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: CADASIL / Enfermedades de los Pequeños Vasos Cerebrales Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: BMC Med Asunto de la revista: MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: CADASIL / Enfermedades de los Pequeños Vasos Cerebrales Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: BMC Med Asunto de la revista: MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Italia