SPTBN2 GENE ASSOCIATED WITH SPINOCEREBELLAR ATAXIA TYPE 5 AND METHODS OF USE

摘要

The present invention provides methods that include analyzing an SCA5polynucleotide, and determining whether the SCA5 polynucleotide includes amutation. The methods may be used to identify a subject that is at risk or notat risk for developing spinocerebellar ataxia type 5. The present inventionalso provides isolated polynucleotides having a mutation present in an SCA5polynucleotide.