作者
J-M Lee, EM Ramos, J-H Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, P Morrison, M Nance, CA Ross, RL Margolis, F Squitieri, S Orobello, S Di Donato, E Gomez-Tortosa, C Ayuso, O Suchowersky, RJA Trent, E McCusker, A Novelletto, M Frontali, R Jones, Tetsuo Ashizawa, S Frank, MH Saint-Hilaire, SM Hersch, HD Rosas, D Lucente, MB Harrison, A Zanko, RK Abramson, K Marder, J Sequeiros, JS Paulsen, GB Landwehrmeyer, RH Myers, ME MacDonald, JF Gusella, Alexandra Durr, Adam Rosenblatt, Luigi Frati, Susan Perlman, Patrick M Conneally, Mary Lou Klimek, Melissa Diggin, Tiffany Hadzi, Ayana Duckett, Anwar Ahmed, Paul Allen, David Ames, Christine Anderson, Karla Anderson, Karen Anderson, Thomasin Andrews, John Ashburner, Eric Axelson, Elizabeth Aylward, Roger A Barker, Katrin Barth, Stacey Barton, Kathleen Baynes, Alexandra Bea, Erik Beall, Mirza Faisal Beg, Leigh J Beglinger, Kevin Biglan, Kristine Bjork, Steve Blanchard, Jeremy Bockholt, Sudharshan Reddy Bommu, Bradley Brossman, Maggie Burrows, Vince Calhoun, Noelle Carlozzi, Amy Chesire, Edmond Chiu, Phyllis Chua, RJ Connell, Carmela Connor, Jody Corey-Bloom, David Craufurd, Stephen Cross, Lucette Cysique, Rachelle Dar Santos, Jennifer Davis, Joji Decolongon, Anna DiPietro, Nicholas Doucette, Nancy Downing, Ann Dudler, Steve Dunn, Daniel Ecker, Eric A Epping, Diane Erickson, Cheryl Erwin, Ken Evans, Stewart A Factor, Sarah Farias, Marta Fatas, Jess Fiedorowicz, Ruth Fullam, Sarah Furtado, Monica Bascunana Garde, Carissa Gehl, Michael D Geschwind, Anita Goh, Jon Gooblar, Anna Goodman, Jane Griffith, Mark Groves, Mark Guttman, Joanne Hamilton, Deborah Harrington, Greg Harris, Robert K Heaton, Karl Helmer, Machelle Henneberry, Tamara Hershey, Kelly Herwig, Elizabeth Howard, Christine Hunter, Joseph Jankovic, Hans Johnson, Arik Johnson, Kathy Jones, Andrew Juhl, Eun Young Kim, Mycah Kimble, Pamela King, Mary Lou Klimek, Stefan Klöppel, Katherine Koenig, Angela Komiti, Rajeev Kumar, Douglas Langbehn, Blair Leavitt, Anne Leserman, Kelvin Lim, Hillary Lipe, Mark Lowe, Vincent A Magnotta, William M Mallonee, Nicole Mans, Jacquie Marietta, Frederick Marshall, Wayne Martin, Sarah Mason, Kirsty Matheson, Wayne Matson, Pietro Mazzoni
发表日期
2012/3/6
期刊
Neurology
卷号
78
期号
10
页码范围
690-695
出版商
Lippincott Williams & Wilkins
简介
Objective
Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.
Methods
We modeled natural log-transformed age at onset as a function of CAG repeat lengths of expanded and normal alleles and their interaction by linear regression.
Results
An apparently significant effect of interaction on age at motor onset among 4,068 subjects was dependent on a single outlier data point. A rigorous statistical analysis with a well-behaved dataset that conformed to the …
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JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore… - Neurology, 2012