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

Subjects

Subjects :

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

Details

Language :

English

ISSN :

1590-3478

Volume :

43

Issue :

2

Database :

MEDLINE

Journal :

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Publication Type :

Report

Accession number :

34739617

Full Text :

https://doi.org/10.1007/s10072-021-05706-0