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Molecular analysis of late onset Huntington's disease.
  1. B Kremer,
  2. F Squitieri,
  3. H Telenius,
  4. S E Andrew,
  5. J Theilmann,
  6. N Spence,
  7. Y P Goldberg,
  8. M R Hayden
  1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada.


    Late onset Huntington's disease is characterised by onset of symptoms after the age of 50 and is usually associated with a milder course. We have analysed the CAG trinucleotide repeat within the HD gene in 133 late onset patients from 107 extended families. The median upper allele size for the CAG repeat was 42 with a range of 38 to 48 repeats. A significant negative correlation (r = -0.29, p = 0.001) was found between the length of repeat and age of onset for the total cohort. However, for persons with age of onset greater than 60, no significant correlation was found. In addition, no significant correlation was found between age of onset and size of the lower allele and the sex of the affected parent or grandparent. There was no preponderance of maternal descent for late onset cases in this series. This study shows that variation in repeat length only accounts for approximately 7% of the variation in age of onset for persons beyond the age of 50 and clearly shows how with increasing onset age the effect of the repeat length on this onset age seems to diminish.

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