Predictors of diagnosis in Huntington disease

Douglas R. Langbehn, Jane S. Paulsen, Phillipa Hedges, Elizabeth McCusker, Samantha Pearce, Ronald Trent, David Abwender, Peter Como, Irenita Gardiner, Charlyne Hickey, Elise Kayson, Karl Kieburtz, Frederick Marshall, Nancy Pearson, Ira Shoulson, Carol Zimmerman, Elan Louis, Karen Marder, Carol Moskowitz, Carmen PolancoStuart Taylor, Naomi Zubin, Catherine Brown, Jill Burke-Holder, Mark Guttman, Sandra Russell, Dwight Stewart, Jackie Thomson, Daniel S. Sax, Marie Saint-Hilaire, Jackie Gray, Cindy Hunter, Nanette Mercado, Eric Siemers, Joanne Wojcieszek, Ted Dawson, Elizabeth Leritz, Adam Rosenblatt, Meeia Sherr, Candace Young, Tetsuo Ashizawa, Jenny Beach, Joseph Jankovic, Jeana Jaglin, Kathleen Shannon, Anders Lundin, Kathleen Francis, Kim Lane, Alexander Auchus, J. Timothy Greenamyre, Steven Hersch, Randi Jones, David Olson, Jang Ho John Cha, Merit Cudkowicz, Walter Koroshetz, Greg Rudolf, Paula Sexton, Anne B. Young, Roger Albin, Kristine Wernette, Donald S. Higgins, Carson Reider, Vicki Hunt, Francis Walker, Robert Hauser, Juan Sanchez-Ramos, Audrey Walker, Martha Nance, Susan Cleary, Gina Rohs, Oksana Suchowersky, Kerry Duncan, Lauren Seeberger, Jody Corey-Bloom, Michael Swenson, Neal Swerdlow, Henry Paulson, Robert Rodnitzky, Lynn Vining, Wayne Martin, Marguerite Wieler, Alicia Facca, Gustavo Rey, William Weiner, Charles Adler, John Caviness, Cindy Lied, Stephanie Newman, Andrew Feigin, Jennifer Mazurkiewicz, Karen Caplan, Janet Cellar, Kenneth Marek, Michael Hayden, Lynn Raymond, Leon S. Dure, Jane Lane, Diane Brown, Stewart Factor, Eric Molho, Madeline Harrison, Carol Manning, Elke Rost-Ruffner, Jonelle Adams, Ruth Cummings, Vicki Wheelock, Richard Dubinsky, Carolyn Gray, Ann Catherine Bachoud-Levi, Hartmut Meierkord, Joseph Friedman, Margaret Lannon, Joan Lawrence, Allen Rubin, Rose Schwarz, Alicia Brocht, Kathy Claude, Joshua Goldstein, Michael McDermott, David Oakes

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

OBJECTIVE: Subtle signs and symptoms of Huntington disease (HD) are often present before impairments reach a point where the neurologic disease is manifest and a diagnosis must be considered. The objective is to examine the prognostic significance of these early clinical signs and symptoms regarding time until unequivocal clinical HD diagnosis. METHODS: We analyzed longitudinal data from 218 at-risk but healthy participants in the Huntington Study Group database who had either normal motor examination results or minimal soft motor signs at first observation. This group was followed periodically in HD clinics for up to 4.5 years. We used survival analysis to examine predictors of time until HD diagnosis. RESULTS: Diagnostic prediction was significantly improved using specific, nonredundant items from the Unified Huntington's Disease Rating Scale. When a movement disorder specialist initially had a global impression of "soft signs" present, cumulative relative risk of diagnosis was 4.68 times greater at 1.5 years of follow-up and 3.58 at 3 years. A neuropsychological test pattern with psychomotor speed 1 SD worse than a semantic knowledge measure increased cumulative risk by 1.99 times at 1.5 years and 1.81 at 3 years. Finally, reports of various subjective HD symptoms increased 3-year relative risk by 2.6 to 3.4. CONCLUSIONS: Findings demonstrate that neuropsychological performance and both the clinician rating and the patient subjective perception of motor difficulties contribute nonredundantly to a prediction of Huntington disease diagnosis. These findings may have implications for prognostic assessment of persons at risk and eventually assist with early interventions.

Original languageEnglish (US)
Pages (from-to)1710-1717
Number of pages8
JournalNeurology
Volume68
Issue number20
DOIs
StatePublished - May 1 2007
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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    Langbehn, D. R., Paulsen, J. S., Hedges, P., McCusker, E., Pearce, S., Trent, R., Abwender, D., Como, P., Gardiner, I., Hickey, C., Kayson, E., Kieburtz, K., Marshall, F., Pearson, N., Shoulson, I., Zimmerman, C., Louis, E., Marder, K., Moskowitz, C., ... Oakes, D. (2007). Predictors of diagnosis in Huntington disease. Neurology, 68(20), 1710-1717. https://doi.org/10.1212/01.wnl.0000261918.90053.96