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Novel Mutation of NOTCH3 Gene in a Chinese Patient with CADASIL Cover

Novel Mutation of NOTCH3 Gene in a Chinese Patient with CADASIL

Balkan Journal of Medical Genetics
Volume 28 (2025): Issue 2 (December 2025)
By: ,  ,  ,  ,   and    
Open Access
|May 2026
Figures & tables

Figures & Tables

Figure 1:

A, Pedigree of the patient’s family. Squares denote male family members; circles denote female family members; slashed symbols represent deceased family members; fully shaded symbols represent symptomatic family members; arrows indicate the proband. B, Sequence of heterozygous c.5171_5172delCA mutation. C, Wild-type NOTCH3 sequence.

Figure 2:

Brain MRI findings of the proband and affected family members. A–L, Brain MRI features of the proband. A–F, T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences show diffuse white matter hyperintensities (WMHs) predominantly in the bilateral periventricular white matter, centrum semiovale, and basal ganglia. G–K, Susceptibility-weighted imaging (SWI) reveals multiple cerebral microbleeds (CMBs) in the cerebral hemispheres, bilateral thalami, cerebellar hemispheres, and brainstem. L, Magnetic resonance angiography (MRA) demonstrates no vascular stenosis or occlusion in the examined vessels. M–Q, Brain MRI of the proband’s eldest brother (Figure 1A, II:1) shows multiple confluent patchy hyperintensities involving the bilateral frontal, temporal, and parietal lobes, bilateral corona radiata, and centrum semiovale, with concomitant passive triventricular hydrocephalus (N) and bilateral hippocampal atrophy and degeneration (M). R–T, Brain MRI of the proband’s younger sister (Figure 1A, II:7) shows multiple patchy hyperintensities on T2-FLAIR sequences involving the bilateral centrum semiovale and corona radiata.
DOI: https://doi.org/10.2478/bjmg-2025-00025 | Journal eISSN: 2199-5761
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Language: English
Page range: 113 - 120
Published on: May 14, 2026
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,
NOTCH3 gene,
Frameshift mutation,
Clinical manifestations
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2026 JX Lin, X Gao, LJ Hou, XY Zhang, X Zhang, XM Liu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 28 (2025): Issue 2 (December 2025)
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