Monogenic Causes of Strokes
Abstract
:1. Introduction
2. Methods
3. Results
3.1. CADASIL
3.2. CARASIL
3.3. RVCL-S
3.4. MELAS
3.5. Sickle Cell Disease (SCD)
3.6. Ehlers-Danlos Syndrome Type IV (EDS-IV)
3.7. Homocystinuria
3.8. Pseudoxantoma Elasticum
3.9. Fabry’s Disease
3.10. Marfan Syndrome
3.11. COL4A1 and COL4A2-Associated Syndromes
3.12. Cerebral Cavernous Malformations
3.13. Hereditary Cerebral Haemorrhage with Amyloidosis (HCHWA)
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Model of Inheritance | Gene | Stroke Mechanism | |
---|---|---|---|
CADASIL | AD | NOTCH-3 | small-vessel disease |
CARASIL | AR | HTRA-1 | small-vessel disease |
RVCL | AD | TREX1 | small-vessel disease |
MELAS | Maternal | mitochondrial DNA | multi-factoral |
Ehlers-Danlos syndrome type IV | AD | COL3A1 | arterial dissection |
Homocystinuria | AR | CBS | small-vessel disease |
Fabry disease | X-linked | GLA | small-vessel disease |
Pseudoxanthoma elasticum (PXE) | AR | ABCC6 | large-artery disease/ small-vessel disease, |
Marfan syndrome | AD | FBN1 | cardioembolism and arterial dissection |
Sickle-cell disease | AR | HBB | large-artery disease/small-vessel disease/haemodynamic mechanism |
CAA | AD | APP, CST3 | haemorrhagic stroke |
HCHWA-D | AD | APP | haemorrhagic stroke |
COL4A1 syndrome | AD | COL4A1 | haemorrhagic stroke |
Cerebral cavernous malformations | AD | CCM1/KRIT1, CCM2/MGC4607, CCM3/PDCD10 | haemorrhagic stroke |
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Chojdak-Łukasiewicz, J.; Dziadkowiak, E.; Budrewicz, S. Monogenic Causes of Strokes. Genes 2021, 12, 1855. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12121855
Chojdak-Łukasiewicz J, Dziadkowiak E, Budrewicz S. Monogenic Causes of Strokes. Genes. 2021; 12(12):1855. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12121855
Chicago/Turabian StyleChojdak-Łukasiewicz, Justyna, Edyta Dziadkowiak, and Sławomir Budrewicz. 2021. "Monogenic Causes of Strokes" Genes 12, no. 12: 1855. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12121855