METHODS USING KCNC3 GENE MUTATIONS FOR SPINOCEREBELLAR ATAXIA 13 (SCA13)

摘要

A method is provided for diagnosing spinocerebellar ataxia 13 (SCA13) orpredicting therisk of developing SCA13 in a human comprising: a) analyzing a nucleic acidsampleobtained from the human for the presence or absence of a mutation in thetransmembranedomain of the KCNC3 gene; wherein the KCNC3 gene without a mutation comprisesSEQ lD NO: 19, and b) determining the presence or absence of a missensemutation inthe nucleotide sequence of a transmembrane domain of the KCNC3 gene in thesample,wherein the missense mutation in the nucleotide sequence of the transmembranedomainresults in a change in the output characteristics of fast spiking cerebellarneurons,whereby determining the presence of the missense mutation in the nucleotidesequence ofthe transmembrane domain is indicative that the individual has or is at riskof developingSCA13.