The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
May. 14, 2002
Filed:
Dec. 22, 1998
Laurie J. Ozelius, Charlestown, MA (US);
Xandra O. Breakefield, Newton, MA (US);
The General Hospital Corporation, Boston, MA (US);
Abstract
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.