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| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Catherine Yang | + 627 word(s) | 627 | 2020-12-15 07:18:39 |
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COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.
References
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebralsmall vessel disease: a systematic review. Stroke. 2010 Aug;41(8):e513-8. doi:10.1161/STROKEAHA.110.581918.
- Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P,Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C. COL4A1mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. AnnNeurol. 2007 Aug;62(2):177-84.
- Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1)mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6. Review.
- Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A. Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome. Curr Med Chem. 2010;17(13):1317-24. Review.
