Torsin, torsin genes, and methods of use

摘要

The present invention relates, in general, to dystonia. In particular, the present invention relates to nucleic acid molecules coding for the torsin protein; purified torsin proteins and polypeptides; recombinant nucleic acid molecules; cells containing the recombinant nucleic acid molecules; antibodies having binding affinity specifically to torsin proteins and polypeptides; hybridomas containing the antibodies; nucleic acid probes for the detection of nucleic acids encoding torsin proteins; a method of detecting nucleic acids encoding torsin proteins and polypeptides in a sample; kits containing nucleic acid probes or antibodies; bioassays using the nucleic acid sequence, proteins or antibodies of this invention to diagnose the presence or absence of a dystonia; to assess, or prognose a human afflicted with torsion dystonia; therapeutic uses; and methods of preventing torsion dystonia in a human. The invention also relates to methods of diagnosing the presence or absence of a dystonia disorder by determining the presence or absence of mutations within a dystonia gene.