Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients

Francesca Pescini, Ida Donnini, Francesca Cesari, Serena Nannucci, Raffaella Valenti, Valentina Rinnoci, Anna Poggesi, Anna Maria Gori, Betti Giusti, Angela Rogolino, Alessandra Carluccio, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Maurizio Balestrino, Enrico Adriano, Rosanna Abbate, Domenico Inzitari, Leonardo Pantoni

Research output: Contribution to journalArticlepeer-review


Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microangiopathy presenting with variable features, including migraine, psychiatric disorders, stroke, and cognitive decline and variable disability. On neuroimaging, CADASIL is characterized by leukoencephalopathy, multiple lacunar infarcts, and microbleeds. Previous studies suggest a possible role of endothelial impairment in the pathogenesis of the disease. Methods: We assessed plasma levels of von Willebrand factor (vWF) and thrombomodulin (TM) and the blood levels of endothelial progenitor cells (EPCs) and circulating progenitor cells (CPCs) in 49 CADASIL patients and 49 age-matched controls and their association with clinical/functional and neuroimaging features. Results: In multivariate analysis, CADASIL patients had significantly higher vWF and lower EPC levels. TM levels were similar in the 2 groups. CADASIL patients with a more severe clinical phenotype (history of stroke or dementia) presented lower CPC levels in comparison with patients with a milder phenotype. On correlation analysis, lower CPC levels were associated with worse performances on neuropsychological, motor and functional tests, and with higher lesion load on brain magnetic resonance imaging (degree of leukoencephalopathy and number of lacunar infarcts). Conclusions: This is the first CADASIL series in which multiple circulating biomarkers have been studied. Our findings support previous studies on the presence and the possible modulating effect of endothelial impairment in the disease. Furthermore, our research data suggest that blood CPCs may be markers of disease severity.

Original languageEnglish
JournalJournal of Stroke and Cerebrovascular Diseases
Publication statusE-pub ahead of print - Apr 12 2016


  • Cerebral small vessel disease
  • Circulating progenitor cells
  • Endothelial impairment
  • Von Willebrand factor

ASJC Scopus subject areas

  • Surgery
  • Rehabilitation
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine


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