Zusammenfassung
Die Bildgebung hat in den letzten 25 Jahren wesentliche neue Hinweise zum Verständnis der Pathophysiologie der juvenilen myoklonischen Epilepsie (JME) geliefert. In diesem Artikel werden die Kernpunkte dieser Arbeiten zusammengefasst, und ihre Bedeutung im Zusammenhang mit genetischen Veränderungen und der Hirnentwicklung bei JME wird diskutiert. Zusammenfassend liegt bei der JME eine komplexe, multifaktorielle Entwicklungsstörung vor, die zu verschiedenen strukturellen und funktionellen Veränderungen kortikaler und subkortikaler Strukturen führt. Dies führt letztendlich zu einer pathologisch erhöhten kortikokortikalen Konnektivität, gestörter kortikaler Inhibition und gestörter thalamokortikaler Rückkopplung. Ein Schwerpunkt dieser Veränderungen betrifft das frontozentrale motorische System, neuere Arbeiten zeigen aber auch darüber hinaus signifikante Veränderungen in anderen Hirnregionen
Abstract
In the past 25 years neuroimaging studies have made a significant contribution to further the understanding of the pathophysiology of juvenile myoclonic epilepsy (JME). This article summarizes the key results of these studies and discusses their meaning in the context of genetic alterations and brain development in JME. In summary, JME is a complex neurodevelopmental disease resulting in multiple structural and functional alterations of cortical and subcortical structures. These alterations ultimately lead to a pathologically increased corticocortical connectivity, impaired cortical inhibition and impaired thalamocortical feedback regulation. Many of these alterations affect the frontocentral motor system but more recent studies have also shown significant alterations in other brain regions.
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C. Vollmar, B. Wandschneider und M. Koepp geben an, dass kein Interessenkonflikt besteht.
Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.
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Vollmar, C., Wandschneider, B. & Koepp, M. Bildgebung beim Janz-Syndrom (juvenile myoklonische Epilepsie). Z. Epileptol. 33, 170–174 (2020). https://doi.org/10.1007/s10309-020-00324-w
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DOI: https://doi.org/10.1007/s10309-020-00324-w