This is the most extensive study on CADASIL in Italy. Clinical phenotype showed several peculiarities in frequency and presentation of the main disease manifestations. Our study enlarges the number of pathogenic NOTCH3 mutations and due to the heterogeneous mutational spectrum observed suggests that full sequencing of exons 2-24 is mandatory for CADASIL screening in the Italian population
CADASIL in central Italy: A retrospective clinical and genetic study in 229 patients / Bianchi, Silvia; Zicari, Enza; Carluccio, Alessandra; Di Donato, Ilaria; Pescini, Francesca; Nannucci, Serena; Valenti, Raffaella; Ragno, Michele; Inzitari, Domenico; Pantoni, Leonardo; Federico, Antonio; Dotti, Maria Teresa. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - ELETTRONICO. - 262:(2015), pp. 134-141. [10.1007/s00415-014-7533-2]
CADASIL in central Italy: A retrospective clinical and genetic study in 229 patients
PESCINI, FRANCESCA;NANNUCCI, SERENA;VALENTI, RAFFAELLA;INZITARI, DOMENICO;PANTONI, LEONARDO;
2015
Abstract
This is the most extensive study on CADASIL in Italy. Clinical phenotype showed several peculiarities in frequency and presentation of the main disease manifestations. Our study enlarges the number of pathogenic NOTCH3 mutations and due to the heterogeneous mutational spectrum observed suggests that full sequencing of exons 2-24 is mandatory for CADASIL screening in the Italian population
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