A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

Author:

Pescini Francesca,Bianchi Silvia,Salvadori Emilia,Poggesi Anna,Dotti Maria Teresa,Federico Antonio,Inzitari Domenico,Pantoni Leonardo

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference19 articles.

1. Patterns of MRI lesions in CADASIL;Chabriat;Neurology,1998

2. The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features;Singhal;Am J Neuroradiol AJNR,2005

3. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal Dominant arteriopathy with subcortical infarcts and leukoencephalopathy;Chabriat;Lancet,1995

4. The phenotypic spectrum of CADASIL: clinical findings in 102 cases;Dichgans;Ann Neurol,1998

5. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype;Singhal;Brain,2004

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