학술논문
Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.
Document Type
Journal Article
Author
Source
Subject
*GENETICS
*CLINICAL biochemistry
*PRECANCEROUS conditions
*INFARCTION
*BLOOD circulation disorders
*MEDICAL imaging systems
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Language
ISSN
1590-1874
Abstract
CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms. It is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. Here, we describe the genetical, clinical, neuropsychological and neuroimaging findings in an Italian CADASIL patient with a rare mutation in exon 10 leading to a Gly528Cys substitution. [ABSTRACT FROM AUTHOR]