Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation

M. Ragno, G. Cacchiò, G. M. Fabrizi, M. Scarcella, F. Silvaggio, T. Cavallaro, F. Taioli, Luigi Trojano

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)181-184
Number of pages4
JournalNeurological Sciences
Volume28
Issue number4
DOIs
Publication statusPublished - Aug 2007

Keywords

  • CADASIL
  • Genetics
  • Imaging

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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    Ragno, M., Cacchiò, G., Fabrizi, G. M., Scarcella, M., Silvaggio, F., Cavallaro, T., Taioli, F., & Trojano, L. (2007). Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation. Neurological Sciences, 28(4), 181-184. https://doi.org/10.1007/s10072-007-0817-x