Scientific Publications

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

Publication TypeJournal Article
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., and Dichgans M.
AbstractWhite 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.
Year of Publication2014
JournalStroke; a journal of cerebral circulation
Date Published (YYYY/MM/DD)2014/02/27
ISSN Number0039-2499