Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15 |
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| Authors: | Stine, O.Collin Pleasant, Nicole Franz, Mary L. Abbott, Margaret H. Folstein, Susan E. Ross, Christopher A. |
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| Affiliation: | 1Department of Psychiatry, The Johns Hopkins School of Medicine 600 North Wolfe Street, Baltmore, MD 21287, USA 2Department of Neuroscience, The Johns Hopkins School of Medicine 600 North Wolfe Street, Baltimore, MD 21287, USA |
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| Abstract: | Huntington's disease (HD) is an autosomal dominant disorderwith a variable age of onset that is influenced by the sex ofthe affected parent. The recent recognition that HD is causedby an expanded triplet repeat suggests the possibility thatthe onset age may be predicted by the length of the repeat.This hypothesis was tested by assaying the length of the repeatin 114 individuals who were clinically diagnosed with HD andhad a known onset age. Every individual had an expanded allele.The range was from 36 to 82 repeats (mean = 48.4 ± 9.51)and larger than the normal range (6 to 31). The size of theexpanded allele was correlated with the age of onset (r = 0.65p <.0001). Despite the highly significant correlation, therepeat size explains less than half of the variance in onsetage. Furthermore, the age of onset cannot be predicted fromthe size of the triplet repeat, particularly if the number ofrepeats is in the smaller end of the expanded range. If therepeat Is |
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