Abstract: The present invention provides isolated nucleic acids encoding human SCA2 protein, or fragments thereof, and isolated SCA2 proteins encoded thereby. Further provided are vectors containing invention nucleic acids, probes that hybridize thereto, host cells transformed therewith, antisense oligonucleotides thereto and compositions containing antibodies that specifically bind to invention polypeptides, as well as transgenic non-human mammals that express the invention protein. In addition, methods for diagnosing spinocerebellar Ataxia Type 2 are provided.

Abstract: The invention provides parkin binding polypeptides and encoding nucleic acids. The invention also provides antibodies specific for the parkin binding polypeptides. The invention additionally provides methods of detecting a parkin binding polypeptide and detecting a nucleic acid encoding a parkin binding polypeptide. The invention further provides methods of using a parkin binding polypeptide. In one embodiment, the invention provides a method of identifying a candidate drug for treating Parkinson's disease by contacting a parkin binding polypeptide with one or more compounds and identifying a compound that alters the activity of the parkin binding polypeptide.

Abstract: The autosomal dominant spinocerebellar ataxias (SCAs) represent a growing and heterogeneous clinical phenotype with ongoing discovery of causative etiologies. Methods: The authors collected DNA and clinically characterized a three-generation Filipino family segregating a dominant ataxia. Following elimination of several known SCA loci, a genome-wide linkage study was undertaken with additional fine mapping of 19q13. Results: Clinical characterization of affected family members revealed cerebellar signs including gait ataxia, limb ataxia/dysmetria, titubation, hypotonia, dysarthria, and nystagmus. Linkage was found in a ˜4 cM region of 19q13 bounded by markers D19S867 and D19S553, with a maximum LOD score of 3.89 at markers D19S904, D19S246, and D19S907. This region overlaps with, though markedly reduces the previously described SCA13 locus. Conclusion: An autosomal dominant cerebellar ataxia clinically distinguishable from SCA13 overlaps with the SCA13 locus on chromosome 19q13.3.

Abstract: In accordance with the present invention, there are provided novel Schwannomin-Binding-Proteins (SBPs). Nucleic acid sequences encoding such proteins and assays employing same are also disclosed. The invention SBPs can be employed in a variety of ways, for example, for the production of anti-SBP antibodies thereto, in therapeutic compositions and methods employing such proteins and/or antibodies. Also provided are transgenic non-human mammals that express the invention protein.

Abstract: The present invention provides novel compositions containing a SCA-2 therapeutic element, which is involved in the regulation normal body weight and may be administered for the prevention of an abnormal accumulation of body fat. In particular the compositions and methods of the present invention may be used for the prevention or reversal of obesity.

Abstract: The present invention provides isolated nucleic acids encoding human SCA2 protein, or fragments thereof, and isolated SCA2 proteins encoded thereby. Further provided are vectors containing invention nucleic acids, probes that hybridize thereto, host cells transformed therewith, antisense oligonucleotides thereto and compositions containing antibodies that specifically bind to invention polypeptides, as well as transgenic non-human mammals that express the invention protein. In addition, methods for diagnosing spinocerebellar Ataxia Type 2 are provided.