Genetik und Bildgebung bei Aufmerksamkeitsdefizit-/Hyperaktivitätsstörungen

Zusammenfassung Formalgenetische Untersuchungen zeigen, dass die Aufmerksamkeitsdefizit-/Hyperaktivitäts-Störung (ADHS) eine hohe Erblichkeit aufweist, wobei wahrscheinlich zahlreiche Gene mit jeweils moderatem Effekt beteiligt sind. Es werden die am häufigsten replizierten Befunde molekulargenetischer Studien zusammengefasst. Die Ergebnisse von bisherigen Genomscans ergeben Hinweise auf mehrere relevante Genorte, vorangestellt Chromosom 5p13, in dessen Nähe das Gen des Dopamintransporters (DAT1) lokalisiert ist. Assoziationsstudien zeigen Zusammenhänge zwischen Varianten in dopaminergen (DRD4, DAT1) bzw. serotonergen Genen (SERT) und dem Vorliegen einer ADHS. Neuroanatomische Hirnveränderungen bei ADHS finden sich vornehmlich im Bereich von fronto-striatalen Strukturen. Weiterhin treten weit verbreitet Auffälligkeiten in anderen kortikalen Arealen und dem Zerebellum auf. Funktionell-bildgebende Studien legen nahe, dass eine Dysfunktion frontostriataler Schleifen an der Pathophysiologie der ADHS beteiligt ist. Der Dopamintransporter ist ein wichtiges Element dopaminerger Neurotransmission; Neurorezeptorstudien zeigen eine erhöhte Dopamintransporter-Bindung radioaktiver Liganden bei ADHS sowie eine Reduktion dieser Bindung unter Methylphenidat-Behandlung.

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