Neue Therapien der spinalen Muskelatrophie

Walter, Maggie C. und Schoser, Benedikt (2018): Neue Therapien der spinalen Muskelatrophie. In: Aktuelle Neurologie, Bd. 45, Nr. 8: S. 617-624

Abstract

5q-associated spinal muscular atrophy (5q-SMA) is a progressive autosomal recessive motor neuron disease with an incidence of 1:10000 in live births. All types of 5q-SMA are caused by the loss of the survival motor neuron 1 gene (SMN1). SMA represents the most frequent neurodegenerative disorder in children. 126 years after the first description of SMA by Hoffmann, SMA became treatable by a licensed drug. Aggregation of the full-length SMN protein by increasing the inclusion of exon 7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein, or replacing the SMN1 gene opened the therapeutic avenues. Although the SMA research field is rapidly growing, there are still several remaining questions: what is the optimal timing for the intervention, particularly at which point is there irreversible pathology that precludes any meaningful therapeutic response? Knowledge and increased awareness of the disease will help narrowing down the diagnostic delay, which will be crucial for the best therapeutic success.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0302-4350
• Sprache: Deutsch