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

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

Authors

Michele Ragno¹, Luigi Pianese², Sara Tiberi³, Gabriella Cacchiò³, Cristina Paci³, Luigi Trojano⁴

Affiliations

¹ Pianeta Salute, Viale Assisi, 88, 63084 Villa Pigna, Ascoli Piceno, Italy.
² U.O.C. Patologia Clinica, ASUR Marche Area Vasta 5, Ascoli Piceno, Italy.
³ Division of Neurology, Ospedale Madonna del Soccorso, ASUR Marche, San Benedetto del Tronto-Ascoli Piceno, Italy.
⁴ Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy. luigi.trojano@unicampania.it.

PMID: 34739617
DOI: 10.1007/s10072-021-05706-0

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Aged
CADASIL* / diagnostic imaging
CADASIL* / genetics
Exons / genetics
Female
Homozygote
Humans
Magnetic Resonance Imaging
Mutation / genetics
Mutation, Missense
Pedigree
Receptor, Notch3 / genetics
Receptors, Notch / genetics

Substances

NOTCH3 protein, human
Receptor, Notch3
Receptors, Notch