Article
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.
Proceedings of the National Academy of Sciences of the United States of America - 9 Mar 2004
Wexler Nancy S, Lorimer Judith, Porter Julie, Gomez Fidela, Moskowitz Carol, Shackell Edith, Marder Karen, Penchaszadeh Graciela, Roberts Simone A, Gayán Javier, Brocklebank Denise, Cherny Stacey S, Cardon Lon R, Gray Jacqueline, Dlouhy Stephen R, Wiktorski Sandra, Hodes Marion E, Conneally P Michael, Penney Jack B, Gusella James, Cha Jang-Ho, Irizarry Michael, Rosas Diana, Hersch Steven, Hollingsworth Zane, MacDonald Marcy, Young Anne B, Andresen J Michael, Housman David E, De Young Margot Mieja, Bonilla Ernesto, Stillings Theresa, Negrette Americo, Snodgrass S Robert, Martinez-Jaurrieta Maria Dolores, Ramos-Arroyo Maria A, Bickham Jacqueline, Ramos Juan Sanchez, Marshall Frederick, Shoulson Ira, Rey Gustavo J, Feigin Andrew, Arnheim Norman, Acevedo-Cruz Amarilis, Acosta Leticia, Alvir Jose, Fischbeck Kenneth, Thompson Leslie M, Young Angela, Dure Leon, O'Brien Christopher J, Paulsen Jane, Brickman Adam, Krch Denise, Peery Shelley, Hogarth Penelope, Higgins Donald S, Landwehrmeyer Bernhard
Abstract excerpt
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a triplet (CAG) expansion mutation. The length of the triplet repeat is the most important factor in determining age of onset of HD, although substantial variability remains after controlling for repeat length. The Venezuelan HD kindreds encompass 18,149 individuals spanning 10 generations, 15,409 of whom are living. Of the...
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