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Type III collagen mutations cause fragile cerebral arteries

 

作者: PopeF. M.,   KendallB. E.,   SlapakG. I.,   KapoorR.,   McDonaldW. I.,   CompstonD. A. S.,   MitchellR.,   HopeD. T.,   MillarM. W.,   DeanJ. C. S.,   JohnstonA. W.,   LynchP. G.,   SarathchandraP.,   NarcisiP.,   NichollsA. C.,   RichardsA. J.,   MackenzieJ. L.,  

 

期刊: British Journal of Neurosurgery  （Taylor Available online 1991）
卷期: Volume 5, issue 6  

页码: 551-574

 

ISSN:0268-8697

 

年代: 1991

 

DOI:10.3109/02688699109002878

 

出版商: Taylor&Francis

 

关键词: Cerebral arteries;type III collagen mutations;genetics;neurology;neurosurgery

 

数据来源: Taylor

 

摘要:

Premature vascular aneurysms and fragility of cerebral arteries are commonly associated with type III collagen mutations and physical signs suggesting a generalized abnormality of connective tissue. Sometimes these traits are clearly genetically transmitted. Here we present seven examples of early cerebrovascular aneurysms or fragility including five examples of carotid cavernous sinus aneurysms. With one exception in which we suspect the mutation is too small to be detected, all of them had easily visible abnormalities of their type III collagen proteins. Further work in progress will eventually allow the characterization of their mutations at gene sequence level and will be followed by the ability to prevent transmission of the mutant genes in these families.

 

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