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Case Reports
. 2022 Feb;43(2):1457-1458.
doi: 10.1007/s10072-021-05706-0. Epub 2021 Nov 5.

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient

Michele Ragno  1 , Luigi Pianese  2 , Sara Tiberi  3 , Gabriella Cacchiò  3 , Cristina Paci  3 , Luigi Trojano  4
Affiliations
Case Reports

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient

Michele Ragno et al. Neurol Sci. 2022 Feb.
No abstract available

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References

    1. Joutel A, Corpechot C, Ducros A et al (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707–710. https://doi.org/10.1038/383707a0 - DOI - PubMed
    1. Mancuso M, Arnold M, Bersano A et al (2020) Monogenic cerebral small vessel disease. consensus recommendations of the European Academy of Neurology. Eur J Neurol 27:909–927. https://doi.org/10.1111/ene.14183 - DOI - PubMed
    1. Valenti R, Bianchi S, Pescini F et al (2011) First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. J Neurol 258(9):1632–1636. https://doi.org/10.1007/s00415-011-5983-3 - DOI - PubMed
    1. Bianchi S, Zicari E, Carluccio A et al (2015) CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol 262(1):134–141. https://doi.org/10.1007/s00415-014-7533-2 - DOI - PubMed
    1. Pradotto L, Orsi L, Mencarelli M et al (2016) Recurrent transient global amnesia as presenting symptoms of CADASIL. Clin Case Rep 4(11):1045–1048. https://doi.org/10.1002/ccr3.666 - DOI - PubMed - PMC

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