Joan O'Keefe, PhD, PT

, Deborah Hall, MD, PhD

Neural underpinnings of cognitive, balance and gait deficits in Huntington’s disease

Huntington’s disease (HD) is a neurodegenerative disease characterized by complex cognitive, gait, and balance deficits which cause reductions in activities of daily living (ADL), increased risk for falls, significant disability and poor quality of life. Patients with HD have difficulty multitasking and their cognitive deficits exacerbate gait and balance deficits, contributing to falls and greater disability. In order to develop preventative and rehabilitative therapies for cognitive and motor deficits in HD it is important to understand the brain activation patterns underlying these cognitive-motor relationships. This research project will examine the extent that different cortical brain regions are activated in individuals with HD during cognitive, balance and walking, and multi-tasking conditions by using a novel, noninvasive, and wireless functional near infrared spectroscopy (fNIRS) technology. fNIRS is a reliable neuroimaging technique that measures blood flow alterations in the brain and can be worn with little to no restrictions on one’s mobility. We will combine this with the use of portable inertial sensors to measure gait and balance deficits during challenging and ecologically valid gait and balance tasks. We will also perform imaging of the brain via MRI to obtain volumetric measurements of different cortical regions to explore the structure-function relationships mediating cognitive, balance and gait dysfunction in HD. Completion of this research study will identify the expected abnormal cortical activation patterns and structural changes in several cortical brain regions during complex cognitive, balance, and gait tasks in HD. This highly innovative research will lay the foundation for the field of dynamic functional imaging and establishment of neural structure-function relationships in HD. This research will also inform future rehabilitation and therapeutic studies and provide outcome measures to monitor their efficacy in future clinical trials, which is needed to improve health care and quality of life for HD patients and their families.