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The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease

Research output: Contribution to journalArticle

Published copy (DOI)


  • Jiří Klempíř
  • Jana Zidovská
  • Jan Stochl
  • Věra Kebrdlová Ing
  • Tereza Uhrová
  • Jan Roth


Publication details

JournalMovement disorders : official journal of the Movement Disorder Society
DatePublished - Jan 2011
Issue number1
Number of pages5
Pages (from-to)125-9
Original languageEnglish


Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P

Bibliographical note

Copyright © 2010 Movement Disorder Society.

    Research areas

  • Adolescent, Adult, Age of Onset, Aged, Czech Republic, Female, Gene Frequency, Genotype, Humans, Huntington Disease, Logistic Models, Male, Middle Aged, Nerve Tissue Proteins, Nuclear Proteins, Proportional Hazards Models, Trinucleotide Repeats, Young Adult

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