Identification of the gene for spinocerebellar ataxia type 5, and method of use

摘要

The present invention provides methods that include analyzing an SCA5 polynucleotide, and determining whether the SCA5 polynucleotide includes a mutation. The methods may be used to identify a subject that is at risk or not at risk for developing spinocerebellar ataxia type 5. The present invention also provides isolated polynucleotides having a mutation present in an SCA5 polynucleotide.