Journal
CLINICAL GENETICS
Volume 65, Issue 4, Pages 267-277Publisher
WILEY
DOI: 10.1111/j.1399-0004.2004.00241.x
Keywords
genetics; Huntington's Disease; onset age; statistical modeling; trinucleotide repeat
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Funding
- NINDS NIH HHS [1 R01 NS40068-01A1] Funding Source: Medline
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Huntington's disease (HD) is a neurodegenerative disorder caused by an unstable CAG repeat. For patients at risk, participating in predictive testing and learning of having CAG expansion, a major unanswered question shifts from Will I get HD? to When will it manifest? Using the largest cohort of HD patients analyzed to date (2913 individuals from 40 centers worldwide), we developed a parametric survival model based on CAG repeat length to predict the probability of neurological disease onset (based on motor neurological symptoms rather than psychiatric onset) at different ages for individual patients. We provide estimated probabilities of onset associated with CAG repeats between 36 and 56 for individuals of any age with narrow confidence intervals. For example, our model predicts a 91% chance that a 40-year-old individual with 42 repeats will have onset by the age of 65, with a 95% confidence interval from 90 to 93%. This model also defines the variability in HD onset that is not attributable to CAG length and provides information concerning CAG-related penetrance rates.
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