High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease due to mutations in the NOTCH3 gene, characterized by recurrent stroke, cognitive deterioration, and MRI signal abnormalities of subcortical white matter (WM) [4, 8].
CADASIL-causing mutations involve the EGF-repeats coding region of the NOTCH3 gene. The majority of pathogenic mutations have been reported within exon 4, 3, and 11 even in Italian pedigrees [6, 8]. Exon 10 mutations have been reported in a few pedigrees, all but one of Italian origin [1, 2, 5, 10, 11].
KeywordsVaricose Vein Venous Insufficiency NOTCH3 Gene Psychiatric Manifestation Cerebral Small Vessel Disease
Research in part supported by a grant from Regione Toscana to AF (Grant number: AOUS 191704-18/12/2007) and Fondazione MPS and PRIN to MT.
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