Impaired vasoreactivity in mildly disabled CADASIL patients

Jonica Campolo, Renata De Maria, Marina Frontali, Franco Taroni, Domenico Inzitari, Antonio Federico, Silvia Romano, Emanuele Puca, Caterina Mariotti, Chiara Tomasello, Leonardo Pantoni, Francesca Pescini, Maria Teresa Dotti, Maria Laura Stromillo, Nicola De Stefano, Alessandra Tavani, Oberdan Parodi

Research output: Contribution to journalArticlepeer-review


Background and purpose: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease caused by NOTCH3 gene mutations. A dysfunction in vasoreactivity has been proposed as an early event in the pathogenesis of the disease. The aim of this study was to verify whether endothelium dependent and/or independent function is altered in CADASIL patients with respect to controls. Methods: Vasoreactivity was studied by a non-invasive pletismographic method in 49 mildly disabled CADASIL patients (30-65 years, 58% male, Rankin scale ≤2) and 25 controls. Endothelium dependent vasodilatation was assessed by reactive hyperaemia (flow mediated dilation-peripheral arterial tone (FMD-PAT)) and endothelium independent vasoreactivity by glyceryl trinitrate (GTN) administration (GTN-PAT). Results: Patients and controls showed comparable age, gender and cardiovascular risk factor distribution. GTN-PAT values were significantly lower in CADASIL patients (1.54 (1.01 to 2.25)) than in controls (1.89 (1.61 to 2.59); p=0.041). FMD-PAT scores did not differ between patients and controls (1.88 (1.57 to 2.43) vs 2.08 (1.81 to 2.58); p=0.126) but 17 CADASIL patients (35%) had FMD-PAT scores below the fifth percentile of controls. FMD-PAT and GTN-PAT values correlated both in controls (ρ=0.648, p

Original languageEnglish
Pages (from-to)268-274
Number of pages7
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number3
Publication statusPublished - Mar 2012

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery
  • Arts and Humanities (miscellaneous)


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