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Genetic considerations in cerebral small vessel diseases
Riwaj Bhagat1, Sandro Marini1, José R Romero1,2
1Department of Neurology, Boston Medical Center, Boston University School of Medicine, Boston, MA, United States.
Insights
Recent genetic discoveries are improving our understanding of cerebral small vessel disease (CSVD). This research offers new ways to identify stroke subtypes and personalize treatments for this complex brain condition.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Cerebral small vessel disease (CSVD) is a group of brain disorders affecting small blood vessels.
- Commonly identified via MRI markers like white matter hyperintensities and microbleeds.
- Pathophysiology involves genetics, environment, and vascular risk factors.
Purpose of the Study:
- To review recent advances in the genetics of CSVD.
- To highlight how genetic factors deepen the understanding of CSVD pathophysiology.
- To explore the potential of genetic insights for improved diagnosis and treatment.
Main Methods:
- Literature review focusing on genetic studies in CSVD.
- Analysis of recent research on genetic determinants and their interaction with environmental factors.
- Synthesis of findings related to genetic factors, stroke subtypes, and clinical care.
Main Results:
- Novel genetic factors contributing to CSVD have been identified.
- Genetic insights are advancing the understanding of CSVD pathophysiology.
- Research shows promise for improved subtype identification of small vessel strokes.
- Mendelian forms of small vessel strokes are being increasingly identified.
Conclusions:
- Genetic discoveries are crucial for understanding CSVD.
- Advances in CSVD genetics may lead to personalized treatments and preventive strategies.
- Pharmacogenetic studies are nearing clinical application for CSVD management.
Abstract:
Cerebral small vessel disease (CSVD) encompasses a broad clinical spectrum united by pathology of the small vessels of the brain. CSVD is commonly identified using brain magnetic resonance imaging with well characterized markers including covert infarcts, white matter hyperintensities, enlarged perivascular spaces, and cerebral microbleeds. The pathophysiology of CSVD is complex involving genetic determinants, environmental factors, and their interactions. While the role of vascular risk factors in CSVD is well known and its management is pivotal in mitigating the clinical effects, recent research has identified novel genetic factors involved in CSVD. Delineating genetic determinants can promote the understanding of the disease and suggest effective treatments and preventive measures of CSVD at the individual level. Here we review CSVD focusing on recent advances in the genetics of CSVD. The knowledge gained has advanced understanding of the pathophysiology of CSVD, offered promising early results that may improve subtype identification of small vessel strokes, has led to additional identification of mendelian forms of small vessel strokes, and is getting closer to influencing clinical care through pharmacogenetic studies.
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