Clinical, Neuroimaging, and Genetic Markers Associated with Cognitive and Functional Outcomes After Traumatic Brain Injury

TL;DR

This study explores how brain injuries lead to long-term cognitive and functional problems, finding that genetic factors, brain changes, and inflammation play key roles.

Contribution

The study identifies genetic polymorphisms in ACE and PON1 genes as novel contributors to cognitive decline after TBI.

Findings

Structural brain abnormalities like ventricular enlargement and gliosis were common in TBI patients.

Persistent neuroinflammatory markers were detected in a significant portion of the cohort.

Genetic variants in ACE and PON1 genes were significantly associated with cognitive decline and functional limitations.

Abstract

Background: Traumatic brain injury (TBI) is a major cause of long-term disability worldwide, often leading to progressive cognitive and functional impairments. This study aimed to investigate the underlying factors contributing to long-term deterioration in TBI patients. Methods: We conducted a comprehensive evaluation of 145 patients aged 18–66 years with a documented history of TBI and ongoing cognitive and behavioral deficits. Assessments included neuroimaging, laboratory tests, genetic analysis, and standardized tools such as the Montreal Cognitive Assessment (MoCA) and the Barthel Index. Results: Structural brain abnormalities, including ventricular enlargement and gliosis, were observed in a substantial portion of the cohort. Persistent neuroinflammatory markers were also identified. Genetic analysis revealed a significant association between cognitive decline and polymorphisms in the ACE and PON1 genes. Patients carrying these variants were more likely to exhibit reduced cognitive performance and greater functional limitations. Conclusion: These findings suggest that genetic predisposition, chronic neuroinflammation, and structural brain damage collectively contribute to long-term outcomes following TBI. This highlights the potential of genetic and imaging biomarkers in identifying high-risk individuals and supports the need for personalized approaches to diagnosis, monitoring, and treatment in chronic TBI management.

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