Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: A rare polymorphism rather than a CADASIL variant

Anna Bersano, Michela Ranieri, Andrea Ciammola, Claudia Cinnante, Silvia Lanfranconi, Maria Teresa Dotti, Livia Candelise, Cinzia Baschirotto, Isabella Ghione, Elena Ballabio, Nereo Bresolin, Maria Teresa Bassi

Research output: Contribution to journalArticlepeer-review

Abstract

Some missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by paucisymptomatic CADASIL. However, the significance of such molecular variants is still unclear. We describe a 49-year-old woman with a CADASIL-like phenotype, carrying a novel cysteine-sparing mutation in exon 29 of the NOTCH3 gene, and discuss the possible pathogenetic role of this molecular variant. Even though atypical clinical and MRI findings make a diagnosis of CADASIL unlikely in this patient, our report nevertheless underlines the intriguing genotype-phenotype relationship in NOTCH3 mutations and the importance of functional investigation to ascertain the role of new NOTCH3 mutations in CADASIL pathogenesis.

Original languageEnglish
Pages (from-to)247-252
Number of pages6
JournalFunctional Neurology
Volume27
Issue number4
Publication statusPublished - Oct 2012

Keywords

  • CADASIL
  • Cysteine residue
  • NOTCH3 mutations
  • White matter lesions

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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