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Authors: Penelope Hogarth1; Diana Rosas2; Hongwei Zhao1; Elise Kayson1; David Oakes1; Karl Kieburtz1; Anne B. Young2; Ira Shoulson1 and the Huntington Study Group3

Institutional affiliations of each author: 1University of Rochester, Rochester, NY, 2Massachusetts General Hospital, Boston, MA, 3see Huntington Study Group Participant List below

Objective: To assess inter-rater reliability of the motor signs of Huntington’s disease (HD).

Background: The ability to identify healthy persons who carry the HD gene and better understanding of the pathogenesis of gene expression have improved prospects for experimental therapeutics aimed at postponing the clinical onset of HD. Investigators in the Huntington Study Group (HSG) assessed agreement among experienced clinicians with respect to an operational definition of the motor onset of HD.

Methods & Results: Thirty-three clinicians experienced in the evaluation of patients with early HD and eight non-clinicians were shown a videotape compiled from the film archives of the U.S.-Venezuela HD Research Project. Observers were asked to rate a 2-3 minute segment of the motor exam for each of 17 subjects thought to be normal or having varying degrees of motor abnormalities. The rating scale ranged from 0 = normal, 1 = non-specific motor abnormalities, 2 = possible motor signs of HD, 3 = probable motor signs of HD, and 4 = unequivocal extrapyramidal movement disorder characteristic of HD. As measured by the kappa statistic, there was substantial agreement among the 33 clinicians in the judgment of unequivocal motor abnormalities (weighted kappa 0.70, standard error 0.09) comparing ratings of 4 with ratings of 0, 1, 2, or 3. The 8 non-clinicians showed only fair agreement (weighted kappa of 0.33, standard error of 0.11).

Conclusion: These findings indicate substantial agreement among experienced observers in the assessment of the unequivocal presence of motor signs of HD. The Pilot Huntington At Risk Observational Study (PHAROS) is underway to assess prospectively the reliability and predictability of motor onset among healthy individuals at immediate risk for HD.

Acknowledgment: Research was supported by the Huntington’s Disease Society of America (New York, NY) and the Hereditary Disease Foundation (Santa Monica, CA).

Huntington Study Group Participants

Tetsuo Ashizawa, Baylor College of Medicine, Houston, TX; James Caress, Wake Forest, Winston Salem, NC; John Caviness, Mayo Clinic, Scottsdale, AZ; Sylvain Chouinard, Montreal General Hospital, Montreal, Canada; Peter Como, University of Rochester, Rochester, NY; Jody Corey-Bloom, University of California - San Diego, San Diego, CA; Wallace Deckel, University of Connecticut, Hartford, CT; Richard Dubinsky, University of Kansas, Kansas City, KS; Stewart Factor, Albany Medical College, Albany, NY; Hubert Fernandez, Memorial Hospital of Rhode Island, Pawtucket, RI; Robert Hauser, University of South Florida, Tampa, Fl; Steven Hersch, Emory University, Atlanta, GA; Susan Hickenbottom, University of Michigan, Ann Arbor, MI; Douglas Hobson, Winnepeg Clinical, Winnepeg, Canada; George Jackson, UCLA Medical Center, Los Angeles, CA; Danna Jennings, Yale University, New Haven, CT; William Johnson, South Jersey Huntington's Disease Treatment Center, Stratford, NJ; Anne Louise Lafontaine, University of Calgary, Calgary, Canada; Carl Leventhal, Rockville, MD; William Mallonee, Hereditary Neurological Disease Center, Wichita, KS; Karen Marder, Columbia-Presbyterian Medical Center, New York, NY; Wayne Martin, University of Alberta, Edmonton, Canada; Marc Mentis, North Shore University Hospital, Manhasset, NY; Martha Nance, University of Minnesota, Minneapolis, MN; Constance Orme, University of Rochester, Rochester, NY; Jane Paulsen, University of Iowa, Iowa City, IA; Alan Percy, Children's Hospital of Alabama, Birmingham, AL; Kimberly Quaid, Indiana University, Indianapolis, IN; Brad Racette, Washington University, St. Louis, MO; Daniel Sax, Boston University, Boston, MA; Kathleen Shannon, Rush-Presbyterian/St Luke's, Chicago, IL; Aileen Shinaman, University of Rochester, Rochester, NY; Leslie Shinobu, Massachusetts General Hospital, Boston, MA; Eric Siemers, Indianapolis, IN; William Weiner, University of Miami, Miami, FL; Vicki Wheelock, University of California - Davis, Sacramento, CA.

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