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Updated: Aug 12, 2025

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
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Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous Malformation

Gustavo da Fontoura Galvão1,2, Elielson Veloso da Silva1,3, Luisa Menezes Trefilio1

  • 1Programa de Pós-Graduação Em Neurologia, Laboratório de Neurociências Translacional, Universidade Federal Do Estado Do Rio de Janeiro, Rio de Janeiro RJ, Brazil.

Translational Stroke Research
|February 1, 2023
PubMed
Summary

Cerebral cavernous malformation (CCM) is a CNS vascular disease. This study investigates PDCD10 mutations in CCM3, revealing early onset and aggressive phenotypes linked to reduced gene expression and altered protein structure.

Keywords:
CCM3Cerebral cavernous malformationFrameshift mutationPDCD10Splicing mutationSyndromic phenotype

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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