BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases. OBJECTIVE: To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy. RESULTS: The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families. CONCLUSIONS: The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin.
BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases. OBJECTIVE: To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy. RESULTS: The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families. CONCLUSIONS: The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin.
Authors: S Bianchi; A Rufa; M Ragno; C D'Eramo; F Pescini; L Pantoni; A Cappelli; A Perretti; E Zicari; P Zolo; D Inzitari; M T Dotti; A Federico Journal: J Neurol Date: 2010-02-19 Impact factor: 4.849
Authors: C Ungaro; P Servillo; Rosalucia Mazzei; D Consoli; F L Conforti; T Sprovieri; P L Lanza; A Quattrone Journal: Neurol Sci Date: 2009-03-04 Impact factor: 3.307
Authors: Marie Monet-Leprêtre; Boris Bardot; Barbara Lemaire; Valérie Domenga; Ophélia Godin; Martin Dichgans; Elisabeth Tournier-Lasserve; Michel Cohen-Tannoudji; Hugues Chabriat; Anne Joutel Journal: Brain Date: 2009-03-17 Impact factor: 13.501