Presymptomatic tests in Huntington's disease and dominant ataxias

Neurol Sci. 2001 Feb;22(1):55-6. doi: 10.1007/s100720170044.

Abstract

Huntington's disease (HD) and dominant ataxias (SCA) represent neurodegenerative hereditary diseases dominantly transmitted for which a direct and accurate genetic test is now available for molecular confirmation and presymptomatic test. Predictive testing programs, according to published international guidelines, are available worldwide. A large number of subjects (n=165) required a predictive HD diagnosis, although only 36% completed the program flow-chart and received the final genetic result (26 had a positive, 34 negative result for mutation). In 4 cases, an allele of intermediate range (33-34 CAGs) was found. Two of these shared the intermediate allele with an expanded repeat. In this case, we estimated the patient's risk to have affected children over the usually reported 50%. In 4 cases, the presymptomatic diagnosis was requested by persons at-risk for SCA1 and SCA3/Machado-Joseph disease. There were no adverse events to results of both HD and SCA presymptomatic diagnoses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • DNA Mutational Analysis / psychology*
  • Female
  • Genetic Counseling / psychology*
  • Genetic Testing / psychology*
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / psychology
  • Male
  • Neuropsychological Tests / standards*
  • Patient Education as Topic / standards*
  • Predictive Value of Tests
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / psychology
  • Trinucleotide Repeat Expansion / genetics