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.
The spectrum of Notch3 mutations in 28 Italian CADASIL families / M.T. Dotti, F. Antonio, R. Mazzei, S. Bianchi, O. Scali, F.L. Conforti, T. Sprovieri, D. Guideiti, U. Aguglia, D. Consoli, L. Pantoni, C. Sarti, D. Inzitari, A. Quattrone. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - 76:5(2005 May), pp. 736-738.
The spectrum of Notch3 mutations in 28 Italian CADASIL families
L. Pantoni
;
2005
Abstract
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.File | Dimensione | Formato | |
---|---|---|---|
v076p00736.pdf
accesso aperto
Tipologia:
Publisher's version/PDF
Dimensione
50.44 kB
Formato
Adobe PDF
|
50.44 kB | Adobe PDF | Visualizza/Apri |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.