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Stroke; a journal of cerebral circulation DOI:10.1161/STROKEAHA.113.004461

Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL.

Publication TypeJournal Article
Year of Publication2014
AuthorsOpherk, C, Gonik, M, Duering, M, Malik, R, Jouvent, E, Hervé, D, Adib-Samii, P, Bevan, S, Pianese, L, Silvestri, S, Dotti, MT, De Stefano, N, Liem, M, Boon, EM, Pescini, F, Pachai, C, Bracoud, L, Müller-Myhsok, B, Meitinger, T, Rost, N, Pantoni, L, Oberstein, SL, Federico, A, Ragno, M, Markus, HS, Tournier-Lasserve, E, Rosand, J, Chabriat, H, Dichgans, M
JournalStroke; a journal of cerebral circulation
Date Published2014/02/27

White matter hyperintensities (WMH) on MRI are a quantitative marker for sporadic cerebral small vessel disease and are highly heritable. To date, large-scale genetic studies have identified only a single locus influencing WMH burden. This might in part relate to biological heterogeneity of sporadic WMH. The current study searched for genetic modifiers of WMH volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease.