June 18, 2010Stroke240 citations

COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease

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Abstract

COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds.

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Lanfranconi et al. (Fri,) studied this question.

synapsesocial.com/papers/69dcccea2e182f147e133326 https://doi.org/https://doi.org/10.1161/strokeaha.110.581918

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1<i>COL4A1</i> Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage2007 · 113 citations
2A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly2009 · 71 citations
3<i>COL4A1</i> mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage2009 · 123 citations
4Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly2004 · 29 citations
5MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL2001 · 365 citations

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