Mutationen im Senataxin-cen: Ursache für Ataxie, Amyotrophe Lateralsklerose oder Tremor

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 phenotypegenotype 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.