Diagnosis and Treatment of SMA and SMN Deficiency

摘要

The present invention provides for methods for diagnosing and treating a motor neuron disease. More specifically, the present invention offers new methods for diagnosing and treating SMA or SMN deficiencies and monitoring treatment. It is possible to identify a subject having a symptom of the disease, and then administer to the subject a therapeutically effective amount of one or more proteins or a gene delivery vehicle or pharmaceutical composition comprising one or more genes selected from the group consisting of Transmembrane protein 41B (Stasimon), Chromosome 19 open reading frame 54 (Rashomon), Tetraspanin 31, Poly (ADP-ribose) polymerase family member 1, Histidyl-tRNA synthetase-like, Chloride channel 7, and Nucleolar protein 1.

主权项

1. A pharmaceutical composition comprising a pharmaceutically acceptable vehicle and a therapeutically effective amount of one or more proteins selected from the group consisting of Transmembrane protein 41B (Stasimon), Chromosome 19 open reading frame 54 (Rashomon), Tetraspanin 31, Poly (ADP-ribose) polymerase family member 1, Histidyl-tRNA synthetase-like, Chloride channel 7, Nucleolar protein 1, and any combination thereof, and any biologically active fragment or variant thereof.