Molecular Pathways and Circulating Biomarkers in Cerebral Cavernous Malformations-A Systematic Review

Area of Science:

• Neuroscience
• Vascular Biology
• Biomarker Discovery

Background:

• Cerebral Cavernous Malformations (CCMs) are CNS vascular lesions affecting 0.16-0.5% of the population.
• CCMs can cause seizures, neurological deficits, and hemorrhage, linked to genetic mutations and signaling pathways like MEKK3/KLF2/4.
• Emerging research implicates inflammatory, angiogenic, coagulation, and gut-brain axis pathways in CCM pathophysiology.

Purpose of the Study:

• To systematically review molecular biomarkers associated with Cerebral Cavernous Malformations (CCMs).
• To emphasize the potential diagnostic and prognostic utility of identified biomarkers.
• To explore how biomarkers can aid therapeutic decision-making in CCM management.

Main Methods:

• Systematic literature review.
• Analysis of circulating plasma biomarkers (e.g., CRP, vitamin D, interleukins).
• Evaluation of imaging biomarkers, including Quantitative Susceptibility Mapping (QSM).

Main Results:

• Circulating biomarkers like CRP, vitamin D, and interleukins may indicate inflammatory and endothelial activity in CCMs.
• Quantitative Susceptibility Mapping (QSM) shows potential in assessing iron deposition and vascular leakage.
• Combined use of circulating and imaging biomarkers may enhance clinical management strategies.

Conclusions:

• Molecular biomarkers offer promising avenues for CCM diagnosis and prognosis.
• Further validation is needed to develop personalized, evidence-based CCM treatment strategies.
• Integrating biomarker data can improve therapeutic decision-making for patients with CCMs.