The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.
Background and Purpose: 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 r...
| Publicado en: | Stroke (00392499) Vol. 43; no. 11; pp. 2871 - 2877 |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
Nov2012
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=108073530&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 108073530 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00392499 1FT jtl: Stroke (00392499) issn: 00392499 maglogo: N pubinfo: dt: Nov2012 vid: 43 iid: 11 pid: 433 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 108073530 NLM22996955 2011724714 10.1161/STROKEAHA.112.665927 NLM22996955 108073530 ppf: 2871 ppct: 6 formats: tig: atl: The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis. aug: au: Pescini F Nannucci S Bertaccini B Salvadori E Bianchi S Ragno M Sarti C Valenti R Zicari E Moretti M Chiti S Stromillo ML De Stefano N Dotti MT Federico A Inzitari D Pantoni L Pescini, Francesca Nannucci, Serena Bertaccini, Bruno affil: Department of Neurological and Psychiatric Sciences, University of Florence, and Department of Radiology, Neuroradiology Unit, Careggi University Hospital, Largo Brambilla 3, 50134 Florence, Italy sug: subj: Algorithms CADASIL Diagnosis Genetic Screening Methods Receptors, Cell Surface Human ROC Curve Sensitivity and Specificity ab: Background and Purpose: 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. Methods: A preliminary scale was created assigning weighted scores to common disease features based on their frequencies obtained in a pooled analysis of selected international CADASIL series. The accuracy of the scale versus the genetic diagnosis was tested with receiver operating characteristic analysis after the application of this scale to 61 CADASIL and 54 NOTCH3-negative patients (no pathogenic mutation on exons 2-23 of the NOTCH3 gene). To improve the scale accuracy, we then developed an ad hoc optimization algorithm to detect the definitive scale. A third group of 39 patients affected by sporadic small-vessel disease was finally included in the algorithm to evaluate the stability of the scale. Results: The cutoff score of the definitive CADASIL scale had a sensitivity of 96.7% and a specificity of 74.2%. This scale was robust to contamination of patients with sporadic small-vessel disease. Conclusions: The CADASIL scale is a simple and sufficiently accurate screening tool to select patients with a high probability to be affected by the disease and therefore to be subjected to the genetic testing. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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