Aktueller Wissensstand zur Amyotrophen Lateralsklerose

Zusammenfassung

Die ALS-Forschung kommt weiter vorwärts. Molekularpathologisch werden die neuronalen Einschlusskörper bzw. die abnormen Proteinaggregate analysiert. In der Pathogeneseforschung spielen Proteinaggregate, Mitochondrienschäden, axonaler Transport, inflammatorische Prozesse und weiterhin die Exzitotoxizität eine wesentliche Rolle. Diagnostisch werden große Hoffnungen auf die Proteinanalytik (Proteomics) in Serum und Liquor gesetzt. Neurophysiologisch wurde mit der Triple-Stimulations-Technik eine Methode beschrieben, die mit hoher Empfindlichkeit die Beteiligung des oberen Motoneurons nachweisen kann, ebenso wie die neue NMR-Methode des Diffusion-Tensor-Imaging. In der neuroprotektiven Therapie ist zu Riluzol noch keine neue Substanz zugekommen. Die symptomatische Therapie wurde jedoch weiter optimiert, insbesondere die Ernährung über PEG und die nicht-invasive Maskenbeatmung. Forschungsperspektivisch werden die größten Hoffnungen gesetzt auf die Genetik jenseits der SOD-1-Mutationen, die Proteinanalytik, die Pathogeneseforschung am Tiermodell, die Interaktion zwischen Genen und Umwelt, den Mechanismus der Exzitotoxizität und das neue Gebiet der Stammzelltransplantation.

Summary

ALS research is further progressing. Molecular pathology has shown various cellular inclusions and abnormal protein aggregates. Pathogenesis research focuses on protein aggregates, mitochondrial dysfunctions, axonal transport, inflammatory processes and still excitotoxicity. Great diagnostic hopes rest on proteomics in serum and CSF. In clinical neurophysiology the Triple-Stimulation-Technique has proven to be a method of high sensitivity to demonstrate the involvement of the upper motor neuron, similarly to the new MRI-variant Diffusion-Tensor-Imaging. There is no new neuroprotective agent in addition to Riluzole. Symptomatic therapy has been further optimized, especially nutrition via PEG and non-invasive ventilation usinga mask. Concerning research perspectives, great hopes rest on the genetics beyond SOD-1-mutations, proteomics, pathogenesis-research in the animal model, on the interaction between genes and environment, mechanisms of excitotoxicity and on the new area of stem cell transplantation.

Schlüsselwörter

Amyotrophe Lateralsklerose

Keywords

Amyotrophic Lateral Sclerosis

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