http://www.cnr.it/ontology/cnr/individuo/prodotto/ID49882

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. (Articolo in rivista)

Type

Label

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. (Articolo in rivista) (literal)

Anno

Alternative label

Oliveri RL,1-2;Muglia M,1; De Stefano N,3; Mazzei R,1; Labate A,1; Conforti FL,1; Patitucci A,1; Gabriele AL,1; Tagarelli G,1; Magariello A,1; Zappia M,2; Gambardella A,1-2; Federico A,3; Quattrone A.1-2 (2001)
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
in Archives of neurology (Chic.)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Oliveri RL,1-2;Muglia M,1; De Stefano N,3; Mazzei R,1; Labate A,1; Conforti FL,1; Patitucci A,1; Gabriele AL,1; Tagarelli G,1; Magariello A,1; Zappia M,2; Gambardella A,1-2; Federico A,3; Quattrone A.1-2 (literal)

Pagina inizio

Pagina fine

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

Rivista

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

Mutations within the Notch3 gene (chromosome 19p13.1) have been identified as the underlying genetic defect associated with CADASIL. Most of these mutations have been localized to exons 3 and 4. We report a novel mutation mutation CGC-->TGC in codon 332, resulting in the replacement of an arginine residue with a cysteine within exon 6 of the Notch3 gene, identified in a kindred from southern Italy with CADASIL. Clinical and neuroimaging data are also presented for affected individuals. (literal)

Note

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

1,Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone - Cosenza (ora ISN) 2,Institute of Neurology, School of Medicine Catanzaro 3,Department of Neurological Sciences, University of Siena, Siena, Italy (literal)

Titolo

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. (literal)

Abstract

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by mutations of the Notch3 gene, usually localized to exons 3 and 4. OBJECTIVES: To report a novel pathogenetic mutation occurring in exon 6 of the Notch3 gene, a location not previously recognized in patients with CADASIL, and to report the results of magnetic resonance spectroscopy in CADASIL. METHODS: Mutation analysis of the Notch3 gene was performed in 2 patients belonging to a large kindred manifesting CADASIL, as well as in 7 clinically unaffected members of the family and 200 control chromosomes. Proton magnetic resonance spectroscopy was used to estimate metabolite resonance intensities in the 2 affected subjects. RESULTS: Sequence analysis of the Notch3 gene showed a new missense mutation CGC-->TGC in codon 332 of exon 6, resulting in the replacement of an arginine residue with a cysteine. This mutation was never observed in the 7 unaffected members of the family and the 200 control chromosomes examined. Proton magnetic resonance spectroscopy showed a diffuse decrease in cerebral N-acetylaspartate, indicating the presence of widespread axonal damage. CONCLUSIONS: Our findings emphasize the role of direct DNA sequence analysis for the diagnosis of CADASIL. Moreover, the results of proton magnetic resonance spectroscopy suggest that widespread axonal damage may be an early finding of the disease. (literal)

Prodotto di