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DOI: 10.1055/s-0029-1223410
© Georg Thieme Verlag KG Stuttgart · New York
Mutationen im Senataxin-Gen: Ursache für Ataxie, amyotrophe Lateralsklerose oder Tremor
Mutations of a Single Gene: Cause for Ataxia, Amyotrophic Lateral Sclerosis or TremorPublication History
Publication Date:
17 November 2009 (online)
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Zusammenfassung
Unsere Vorstellung über die molekulare Ätiologie genetisch bedingter Erkrankungen war bisher überwiegend von der Ansicht geprägt, dass ein spezifischer klinischer Phänotyp durch Mutationen in einem bestimmten Gen verursacht wird. Heutzutage wissen wir, dass einerseits ein und dieselbe Krankheit auch durch Veränderungen an verschiedenen Loci des humanen Genoms bedingt sein kann. Andererseits können auch Variationen innerhalb eines Gens zu phänotypisch unterschiedlichen Krankheitsbildern führen. Kliniker und Genetiker stehen nun vor der Herausforderung, Phänotyp-Genotyp-Korrelationen zu erkennen und daraus diagnostische und therapeutische Schlussfolgerungen abzuleiten. An dem Beispiel ausgewählter Bewegungsstörungen, die durch Mutationen im Senataxin-Gen verursacht werden, soll Einblick in die Komplexität dieser Problematik gegeben werden.
Abstract
It was generally accepted that genetically caused diseases are due to mutations within a specific gene. Recently it was revealed that, on the one hand, a given disorder may be related to mutations at different loci within the human genome. On the other hand, molecular changes in a certain gene may produce clinically distinguishable disorders. Therefore, physicians and geneticists are face with the challenge to establish phenotype-genotype correlations and to deduce relevant diagnostic and therapeutic procedures. This highly complex task is illustrated for the example of movement disorders caused by mutations of the SETX gene.
Schlüsselwörter
Ataxie - AOA2 - ALS4 - TAS - Senataxin
Keywords
ataxia - AOA2 - ALS4 - TAS - senataxin
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Prof. Dr. Christine Zühlke
Institut für Humangenetik, Universität zu Lübeck
Ratzeburger Allee 160
23538 Lübeck
Email: Christine.Zuehlke@uk-sh.de