Genetic testing in spinocerebellar ataxias: defining a clinical role.

  title={Genetic testing in spinocerebellar ataxias: defining a clinical role.},
  author={Eng-King Tan and Tetsuo Ashizawa},
  journal={Archives of neurology},
  volume={58 2},
Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs. Certain characteristic clinical features and ethnic predilection of some of the SCA subtypes may help prioritize specific SCA gene testing. Available data on genotype-phenotype correlation suggest that currently available… CONTINUE READING

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