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The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.
Francesca Pescini
1 ,
Serena Nannucci ,
Bruno Bertaccini ,
Emilia Salvadori ,
Silvia Bianchi ,
Michele Ragno ,
Cristina Sarti ,
Raffaella Valenti ,
Enza Zicari ,
Marco Moretti ,
Stefano Chiti ,
Maria Laura Stromillo ,
Nicola De Stefano ,
Maria Teresa Dotti ,
Antonio Federico ,
Domenico Inzitari ,
Leonardo Pantoni
Nov 2012
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Abstract
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) phenotype is highly variable, and, although the full clinical-neuroimaging picture may be suggestive of the disease, no characteristic is pathognomonic. Thus, a genetic test remains the diagnostic gold standard, but because it is costly and time-consuming, a pregenetic screening appears desirable. We aimed at developing the CADASIL scale, a screening tool to be applied in the clinical setting.