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Updated: Jul 11, 2026
06:01
A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
The role of genetics in stroke
John Francis1, Senthil Raghunathan, Pradeep Khanna
1Nevill Hall Hospital, Abergavenny, UK. FrancisJA@Cardiff.ac.uk
Postgraduate Medical Journal
|September 8, 2007
Summary
Genetic factors significantly contribute to stroke risk, especially in young individuals. This review details single gene disorders causing stroke, aiding in the diagnosis and management of young stroke patients.
Area of Science:
- Neurology
- Genetics
- Internal Medicine
Background:
- Stroke is a major cause of death and disability globally.
- Modifiable and non-modifiable risk factors explain only half of stroke cases.
- Genetic factors are increasingly recognized as important contributors to stroke risk.
Purpose of the Study:
- To summarize single gene disorders that manifest primarily as stroke.
- To provide an updated overview of the genetic basis, pathogenesis, and clinical presentation of these disorders.
- To offer a practical approach to managing and investigating young stroke patients.
Main Methods:
- Review of recent family history, twin, and candidate gene studies.
- Identification and summarization of known mendelian stroke syndromes.
- Synthesis of information on genetic basis, pathogenesis, presentation, and management.
Main Results:
- Various single gene disorders are associated with stroke as a primary feature.
- These genetic conditions often lead to stroke in younger individuals.
- Understanding these genetic underpinnings is crucial for diagnosis and treatment.
Conclusions:
- Genetic factors play a significant role in stroke etiology, particularly in young-onset cases.
- Recognition of mendelian stroke syndromes is essential for effective patient management.
- A systematic approach to investigating young stroke patients should include genetic evaluation.
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