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A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

Langbehn, D; Brinkman, R; Falush, D; Paulsen, J; Hayden, M; Landberg, Ingela; Kristoffersson, Ulf LU and International Huntington's Disease, Collaborative Group (2004) In Clinical Genetics 65(4). p.267-277
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Clinical Genetics
volume
65
issue
4
pages
267 - 277
publisher
Wiley-Blackwell
external identifiers
  • scopus:1842477303
ISSN
0009-9163
DOI
10.1111/j.1399-0004.2004.00241.x
language
English
LU publication?
yes
id
a3958859-e23f-41f7-bb39-208a74e7b49b (old id 1130656)
date added to LUP
2008-06-19 13:48:39
date last changed
2017-12-17 03:24:12
@article{a3958859-e23f-41f7-bb39-208a74e7b49b,
  abstract     = {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.},
  author       = {Langbehn, D and Brinkman, R and Falush, D and Paulsen, J and Hayden, M and Landberg, Ingela and Kristoffersson, Ulf and International Huntington's Disease, Collaborative Group},
  issn         = {0009-9163},
  language     = {eng},
  number       = {4},
  pages        = {267--277},
  publisher    = {Wiley-Blackwell},
  series       = {Clinical Genetics},
  title        = {A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.2004.00241.x},
  volume       = {65},
  year         = {2004},
}