One of the challenges of understanding Huntington Disease (HD) is our poor understanding of the early symptoms of the disease and how they progress. This study, being conducted by Dr. Tatiana Foroud at Indiana University School of Medicine, seeks to document longitudinal changes among individuals at-risk for HD. This National Institutes of Health funded study is designed to:

1. further delineate the changes observed in the subclinical and early symptomatic phase of HD
2. measure the rate of increasing abnormality among presymptomatic gene carriers
3. identify tests with similar rates of change which might suggest common pathways affected early in the disease process; and
4. quantify the relationship of CAG repeat number with disease onset and progression.

Individuals who participate in this study come to Indiana University where they complete a one day study. Any individual over the age of 18 who has a parent diagnosed with HD can participate. The results of these studies will improve the understanding of the presymptomatic and early symptomatic phase of HD allowing for earlier diagnosis and identify subclinical biomarkers that can be utilized in clinical trials to evaluate therapeutic agents designed to slow progression and delay the onset of clinical HD.

Results from this study are currently being analyzed, but there have been a number of papers published from earlier studies that were completed by this research group. These have found early changes in eye movements, some pencil and paper tests that evaluate how we think, some early changes in the speed at which an individual can respond to different sounds and images. These publications are listed below.

1. O’Donnell BF, Wilt MA, Hake A, Stout JC, Kirkwood SC, Foroud T. Visual function in Huntington’s disease patients and presymptomatic gene carriers. Movement Disorders 18(9):1027-1034, 2003.
   
   
2. Kirkwood SC, Siemers E, Viken R, Hodes ME, Conneally PM, Christian JC, Foroud T. Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales. Journal of Psychiatric Research 36(6):377-382, 2002
   
   
3. Kirkwood SC, Siemers E, Viken R, Hodes ME, Conneally PM, Christian JC, Foroud T. Longitudinal personality changes among presymptomatic HD gene carriers. Neuropsychiatry, Neuropsychology and Behavioral Neurology 15(3):192-197, 2002
   
   
4. Kirkwood SC, Siemers E, Hodes ME, Conneally PM, Christian JC, Foroud T. Subtle changes among presymptomatic carriers of the Huntington’s disease gene. Journal of Neurology, Neurosurgery, and Psychiatry 69(6):773-779, 2000.
   
   
5. Kirkwood SC, Siemers E, Bond C, Conneally PM, Christian JC, Foroud T. Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene. Archives of Neurology 57:1040-1044, 2000
   
   
6. Kirkwood SC, Siemers E, Stout JC, Hodes ME, Conneally PM, Christian JC, Foroud T. Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers. Archives of Neurology 56:563-568, 1999.