Aktuelle Aspekte in der Diagnostik und Therapie der amyotrophen Lateralsklerose

Zusammenfassung

Die amyotrophe Lateralsklerose (ALS) ist eine fatal verlaufende, progrediente, vorwiegend das motorische Nervensystem betreffende Multisystemerkrankung. In der letzten Dekade haben insbesondere Fortschritte auf molekulargenetischer Ebene die Schritte in der Erforschung dieser Erkrankung beschleunigt. Neue Genloci wurden gefunden und neue neuroprotektive Strategien entwickelt. Der nachfolgende effektive Einsatz potenziell wirksamer Substanzen an ALS-Tiermodellen führte zu einer Reihe von Medikamentenstudien am Menschen, die jedoch bislang nur limitierte Effekte auf Langzeitüberleben und Krankheitsprogression zeigen konnten. Bis die Möglichkeiten einer kausalen Therapie relevanter für die Praxis werden, steht ein palliativer, symptomorientierter Therapieansatz im Vordergrund. Aktuelle klinische Aspekte der Diagnostik und Differenzialdiagnostik sowie der symptomatischen Therapie werden in dieser Übersicht dargestellt.

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal multisystem disorder affecting predominantly the motor system. In the past decade, advances in genetics have accelerated the progress in ALS research. New gene loci were identified, and promising neuroprotective strategies were developed. The effective application of several pharmacologically active compounds in ALS animal models were the experimental background of several clinical drug studies. However, none of the clinical trials could show any major benefit to survival or disease progression. Until these novel causal therapeutical options will reach relevant clinical potency, palliative and symptomatic therapy regimes are still most important. Recent clinical aspects of diagnosis, differential diagnosis and symptomatic therapy in ALS are reviewed.

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