The spectrum of Notch3 mutations in 28 Italian CADASIL families

被引:63
作者
Dotti, MT
Federico, A
Mazzei, R
Bianchi, S
Scali, O
Conforti, FL
Sprovieri, T
Guidetti, D
Aguglia, U
Consoli, D
Pantoni, L
Sarti, C
Inzitari, D
Quattrone, A
机构
[1] Univ Siena, Policlin Scotte, Dept Neurol & Behav Sci, I-53100 Siena, Italy
[2] CNR, Inst Neurol Sci, Cosenza, Italy
[3] Neurol Unit, Reggio Emilia, Italy
[4] Neurol Unit, Reggio Di Calabria, Italy
[5] Neurol Unit, Vibo Valentia, Italy
[6] Univ Florence, Dept Neurol & Psychiat Sci, I-50121 Florence, Italy
关键词
D O I
10.1136/jnnp.2004.048207
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页码:736 / 738
页数:3
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