Zusammenfassung
Schlaganfälle umfassen ischämische Hirninfarkte, intrazerebrale Blutungen und Subarachnoidalblutungen. Monogene Erkrankungen sind zwar nur für einen geringen Teil der Schlaganfälle verantwortlich, bei jüngeren Patienten sind sie allerdings eine wichtige Differenzialdiagnose. Bei den sporadischen Fällen spielen genetische Einflüsse neben konventionellen Risikofaktoren eine in zunehmendem Maß als bedeutsam erkannte Rolle. Der Beitrag liefert eine Übersicht über die wichtigsten monogenen Schlaganfallursachen und neuere Entwicklungen bei der Identifizierung von Risikogenen für den sporadischen Schlaganfall.
Abstract
Genetic factors are important in influencing stroke risk. A variety of mendelian conditions are associated with an increased risk of stroke mostly through one or a few defined stroke mechanisms such as small vessel disease, large artery disease, or cardioembolism. Recent advances in high throughput genotyping have enabled the identification of susceptibility genes for cardiovascular risk including stroke. This article summarizes some of the recent discoveries in both mendelian stroke syndromes and sporadic stroke.
Literatur
Begbie ME, Wallace GM, Shovlin CL (2003) Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 79: 18–24
Casas JP, Hingorani AD, Bautista LE, Sharma P (2004) Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Arch Neurol 61: 1652–1661
Dichgans M (2007) Genetics of ischaemic stroke. Lancet Neurol 6: 149–161
Dichgans M, Hegele RA (2007) Update on the genetics of stroke and cerebrovascular disease 2006. Stroke 38: 216–218
Flossmann E, Schulz UG, Rothwell PM (2004) Systematic review of methods and results of studies of the genetic epidemiology of ischemic stroke. Stroke 35: 212–227
Gieteling EW, Rinkel GJ (2003) Characteristics of intracranial aneurysms and subarachnoid haemorrhage in patients with polycystic kidney disease. J Neurol 250: 418–423
Joutel A, Corpechot C, Ducros A et al. (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383: 707–710
Koerner IP, Jacks R, DeBarber AE et al. (2007) Polymorphisms in the human soluble epoxide hydrolase gene EPHX2 linked to neuronal survival after ischemic injury. J Neurosci 27: 4642–4649
Labauge P, Denier C, Bergametti F, Tournier-Lasserve E (2007) Genetics of cavernous angiomas. Lancet Neurol 6: 237–244
Maia LF, Mackenzie IR, Feldman HH (2007) Clinical phenotypes of cerebral amyloid angiopathy. J Neurol Sci (Epub ahead of print)
Interessenkonflikt
Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Gschwendtner, A., Dichgans, M. Genetik des Schlaganfalls. medgen 19, 321–324 (2007). https://doi.org/10.1007/s11825-007-0039-x
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11825-007-0039-x