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Hereditäre Dystonien

Hereditary dystonias

Zusammenfassung

Dystonien sind eine klinisch und ätiologisch heterogene Gruppe von Bewegungsstörungen. Charakteristisch sind unwillkürliche Muskelkontraktionen, die zu drehenden, schraubenden und repetitiven Bewegungen führen und sehr schmerzhaft sein können. Die Dystonie kann dabei das einzige Symptom sein („isolierte Dystonie“) oder von anderen Symptomen begleitet werden („kombinierte Dystonie“), sie kann aber auch eine Manifestation jedweder das Zentralnervensystem betreffenden Erkrankung sein, die das motorische System in Mitleidenschaft zieht (z. B. neurodegenerative, ischämische, traumatische Prozesse). In den letzten 20 Jahren hat die Entwicklung neuer molekulargenetischer Technologien zur Entdeckung neuer Gene geführt, die vielen Dystoniesubtypen zugrunde liegen, und eine verbesserte Klassifizierung sowie einen tieferen Einblick in die Pathophysiologie ermöglicht. Es wird eine aktuelle Übersicht über die genetisch determinierten Dystonien mit Fokus auf den sog. isolierten bzw. kombinierten Formen vorgelegt. Die Zusammenstellung phänotypischer Charakteristika zu spezifischen genetischen Veränderungen soll dem Kliniker ermöglichen, anhand konkreter klinischer Manifestationen eine entsprechende molekulargenetische Abklärung in die Wege zu leiten.

Abstract

Dystonias are a clinically and causally heterogeneous group of movement disorders characterized by involuntary muscle contractions that lead to twisting, turning and repetitive movements that can be very painful. Isolated (primary) dystonia is classified clinically as a disease in which dystonia is the only neurological symptom (with or without tremor). Dystonia accompanied by other clinical symptoms (such as parkinsonism or myoclonus) is classified as combined dystonia (dystonia-plus). However, dystonia can be a symptom of any disease of the central nervous system that affects the motor system (e.g. neurodegenerative, ischemic, traumatic processes). During the last 20 years, the development of new molecular genetic technologies has led to the discovery of new genes underlying many dystonia subtypes and to a deeper understanding of the pathophysiology of dystonia. Furthermore, new classification schemes have emerged. This review provides an overview of the genetically determined dystonias, with emphasis on the so-called isolated and combined forms. The summary of phenotypic characteristics associated with specific genetic mutations should enable the clinician to initiate appropriate molecular genetic diagnostics on the basis of concrete clinical manifestations.

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Danksagung

K.G. wird über das Eliteprogramm für Postdoktorandinnen und Postdoktoranden der Baden-Württemberg Stiftung, die Deutsche Forschungsgemeinschaft und das IZKF-Promotionskolleg der Universität Tübingen gefördert.

Interessenkonflikt

Die korrespondierende Autorin gibt für sich und ihren Koautor an, dass kein Interessenkonflikt besteht.

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Correspondence to K. Grundmann M.D..

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Grundmann, K., Gasser, T. Hereditäre Dystonien. medgen 25, 206–214 (2013). https://doi.org/10.1007/s11825-013-0388-6

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Schlüsselwörter

  • Dystonie
  • Genetik
  • Autosomal-dominante Dystonien
  • Autosomal-rezessive Dystonien
  • Parkinsonismus

Keywords

  • Dystonia
  • Genetics
  • Autosomal dominant dystonias
  • Autosomal recessive dystonias
  • Parkinsonism