Presymptomatic tests in Huntington's disease and dominant ataxias

M. Cannella, M. Simonelli, C. D'Alessio, F. Pierelli, S. Ruggieri, F. Squitieri

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)55-56
Number of pages2
JournalNeurological Sciences
Volume22
Issue number1
DOIs
Publication statusPublished - Feb 2001

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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