Bersano, Anna and Ranieri, Michela and Ciammola, Andrea and Cinnante, Claudia and Lanfranconi, Silvia and Dotti, Maria Teresa and Candelise, Livia and Baschirotto, Cinzia and Ghione, sabella and Ballabio, Elena and Bresolin, Nereo and Bassi, Maria Teresa (2012) Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant. Functional Neurology, 27 (4). pp. 247-252. ISSN 1971-3274
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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 patho-genetic 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CADASIL, cysteine residue, NOTCH3 mutations, white matter lesions |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 08 Jan 2016 11:40 |
| Last Modified: | 08 Jan 2016 11:40 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/10767 |
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