Neuronale Migrationsstörungen: Klinik und Molekulargenetik der Lissenzephalien

Zusammenfassung

Lissenzephalien sind eine klinisch und genetisch heterogene Gruppe zerebraler Fehlbildungen. Sie sind durch eine fehlende Reifung der kortikalen Gyrierung charakterisiert und Folge embryonaler neuronaler Migrationsstörungen. Es werden isolierte Lissenzephalien von syndromalen Lissenzephalien unterschieden, die mit weiteren zerebralen Fehlbildungen oder anderen Organmanifestationen einhergehen können. Klinisch stehen das Auftreten epileptischer Anfälle sowie eine unterschiedlich ausgeprägte mentale Retardierung im Vordergrund. Es wurden kausal bereits mehrere Gene für verschiedene Formen der isolierten Lissenzephalien identifiziert, wobei der Nachweis weiterer lissenzephalieassoziierter Gene zu erwarten ist.

Abstract

Lissencephalies are a clinically and genetically heterogeneous group of cerebral malformations characterized by the lack of cortical organization due to impaired neuronal migration during embryogenesis. Lissencephalies are divided into isolated forms and syndromic forms that are associated with additional cerebral malformations and multi-organ dysfunction. Clinically, epileptic seizures as well as mental retardation are present in affected patients. Several genes were recently identified to be causally linked to different forms of isolated lissencephalies and systematic mutational analysis may reveal new lissencephally associated genes.

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