Genetic testing in inherited ataxias

Semin Pediatr Neurol. 2003 Sep;10(3):223-31. doi: 10.1016/s1071-9091(03)00031-7.

Abstract

Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible for some conditions, but the use of gene tests in these clinical situations requires detailed genetic counseling that may be best left to genetics specialists.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • DNA / genetics
  • Disease Progression
  • Genetic Counseling
  • Humans
  • Magnetic Resonance Imaging
  • Neurologic Examination
  • Spinocerebellar Degenerations / diagnosis*
  • Spinocerebellar Degenerations / genetics*

Substances

  • DNA