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First Evidence of a Pathogenic Insertion in the NOTCH3 Gene Causing CADASIL
  1. Rosalucia Mazzei (r.mazzei{at}isn.cnr.it)
  1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
    1. Donata Guidetti (d.guidetti{at}ausl.pc.it)
    1. UOC di Neurologia, Ospedale Guglielmo da Saliceto di Piacenza, Italy
      1. Carmine Ungaro (c.ungaro{at}isn.cnr.it)
      1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
        1. Francesca Luisa Conforti (fl.conforti{at}isn.cnr.it)
        1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
          1. Maria Muglia (m.muglia{at}isn.cnr.it)
          1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
            1. Giovanna Cenacchi
            1. Department of Radiological and Istocytopathological Sciences, Section of Pathology, BO, Italy
              1. Pier Luigi Lanza (pl.lanza{at}isn.cnr.it)
              1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                1. Alessandra Patitucci (a.patitucci{at}isn.cnr.it)
                1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                  1. Teresa Sprovieri (t.sprovieri{at}isn.cnr.it)
                  1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                    1. Patrizia Riguzzi
                    1. UO di Neurologia, Ospedale Belluria di Bologna, Italy
                      1. Angela Magariello (a.magariello{at}isn.cnr.it)
                      1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                        1. Anna Lia Gabriele (al.gabriele{at}isn.cnr.it)
                        1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                          1. Luigi Citrigno (l.citrigno{at}isn.cnr.it)
                          1. Institute of Neurological Sciences CNR, Mangone (CS), Italy
                            1. Paola Preda
                            1. UO di Anatomia e Istologia Patologica, Ospedale Sant'Orsola di Bologna, Italy
                              1. Aldo Quattrone (a.quattrone{at}isn.cnr.it)
                              1. Institute of Neurology, University Magna Graecia, Catanzaro, Italy

                                Abstract

                                CADASIL (OMIM 125310) is an increasingly recognized adult-onset autosomal dominant vascular disease characterized by recurrent transient ischemic attacks (TIAs) and strokes (43% of patients), vascular dementia (6%), migraine with aura (40% of patients) and psychiatric disturbances (9% of patients); epilepsy has been reported in 2 to 10% of subjects.1 All patients revealed prominent signal abnormalities on brain MRI—leukoencephalopathy on T2- and small subcortical infarcts on T1-weighted images.2

                                • CADASIL
                                • Leukoencephalopathy
                                • NOTCH3 gene

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