Biography
Joan Ann (Joanne) O’Keefe, PhD, PT has extensive clinical and research expertise in evaluating gait, balance, and other motor functions in patients with movement disorders. She received her B.S. in Physical Therapy from the University of Illinois-Chicago, her PhD in Anatomy and Neurobiology from Loyola University Chicago and completed her postdoctoral training at the University of Kentucky. She is presently an Associate Professor of Anatomy & Cell Biology with joint appointments in Neurological Sciences and Occupational Therapy. Her research expertise is in the detection, characterization, and examination of underlying neural mechanisms of gait and balance impairments and associated cognitive interactions in neurodegenerative movement disorders including Fragile X-associated tremor/ataxia syndrome (FXTAS), Parkinson’s disease, and Huntington’s disease.
⦁ measures hemodynamic responses in cerebral cortex during balance, gait, and cognitive tasks
Our Work
Dr. O’Keefe’s laboratory evaluates gait, balance, and tremor in patients with movement disorders using digital health technologies (DHTs). Her research interests are in the detection, characterization, and examination of underlying neural mechanisms of gait and balance impairments and associated cognitive interactions in neurodegenerative movement disorders, including Fragile X-associated tremor/ataxia syndrome (FXTAS), Parkinson’s disease (PD), Essential Tremor and Huntington’s disease. Dr. O’Keefe’s lab also studies non-invasive therapeutic interventions in several movement disorders populations. She performs exercise clinical trials in PD, outcome measures assessment including use of DHTs for future clinical trials in FXTAS, vagal nerve stimulation and wearable electrical stimulation devices to improve balance and gait in PD and participates in numerous gene therapy trials and natural history studies in children with neurodevelopmental disorders. She is presently a member of the Ataxia Global Initiative and Huntington’s Study Group Digital Outcomes Working Groups. She is funded by the NIH, DOD, VA, and various foundations and industries.
Technology and Methods
- Inertial Sensor Based Gait, Balance, and Tremor Analyses
- Functional near infrared spectroscopy (fNIRS): Portable optical neuroimaging system to examine cortical activation under ecologically valid gait, balance, and cognitive function tasks.
- MRI image analysis
- Transcranial Magnetic stimulation (TMS)
- Dual task treadmill training
- Neurodevelopmental testing
- Neuropsychological testing
Grants
- NIH-NINDS U01 14234988 Clinical Outcome Assessment and Treatment Monitoring Markers for Clinical Trial Readiness in FXTAS (Co-Investigator). This multi-site longitudinal project aims to establish valid, reliable, and sensitive clinical outcome measures, including digital tremor and balance measurements and brain imaging markers, for use in future clinical trials of patients with FXTAS to monitor treatment response. These measures will be optimized across multiple clinic sites and guided by an Advisory Committee of patient advocates, clinicians, researchers, and drug industry representatives.
- NIH-NINDS 1 U01 NS113851; “Study in Parkinson's Disease of Exercise Phase 3 Clinical Trial: SPARX3” (Rush Site PI)
This project aims to test whether the progression of the signs of PD is attenuated at 12 months in non-medicated people with PD when they perform high-intensity endurance treadmill exercise. - 1I21RX005133-01A1 (Co-Investigator) “Stimulating the Vagus nerve to improve gait in Veterans with Parkinson's disease”; Department of Veterans Affairs: VA Rehabilitation Research and Development SPiRE Program. The goal is to develop a non-invasive, neuromodulatory transcutaneous cervical Vagal Nerve Stimulation as an at-home intervention to improve gait and balance in veterans with PD.
- DDX3X Foundation (Co-Investigator) : Characterizing the Natural History of DDX3X Syndrome to Inform the Development of Intervention Outcome Measures.
- Cures Within Reach (Co-Investigator) “Using a Wearable Leg Stimulation Device to Improve Mobility of Veterans with Parkinson's Disease.” This open-label, crossover pilot trial is evaluating whether the Cionic Neural Sleeve electrical stimulation device improves walking and freezing episodes in veterans with PD.
- University of Notre Dame Philanthropy (Co-Investigator): Intrathecal 2-Hydroxypropyl-β-cyclodextrin for Neurological Decline in Patients with Niemann-Pick Disease Type C10
- DOD: HT9425-24-1-0099 (PI) “Neural Underpinnings of the Relationship Between Cognitive and Gait Dysfunction in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)”. The major goals of this project are to understand the structural and functional neural underpinnings of the relationship between cognitive and gait dysfunction in FXTAS to be applied to future interventional studies.
- Rush Imaging Research Core Pilot Seed Grant (PI). “Structural and functional brain imaging to identify the neural underpinnings of the relationship between cognitive and gait dysfunction in Fragile X-associated tremor/ataxia syndrome (FXTAS).” The major goal of this seed grant is to collect pilot fNIRS, MRI, and digital gait data in 10 controls and 10 FXTAS individuals to provide preliminary data for a future DOD or R01 grant.
- Huntington’s Disease Society of America (PI); “Neural underpinnings of cognitive, balance and gait deficits in Huntington’s disease.” The major goal of this project is to examine cortical activity via portable fNIRS technology to examine cortical functional relationships mediating gait, balance, and cognitive impairments in Huntington’s disease.
- U01NS113851 (Co-Investigator)
“Study in Parkinson Disease of Exercise Phase 3 Clinical Trial: SPARX3”. This is a Phase 3 multi-site RCT to study the impact of moderate or high intensity treadmill exercise on changes in MDS-UPDRS motor scores and digital gait outcome measures longitudinally in persons with early-stage Parkinson disease. - Regeneron Pharmaceuticals (Co-PI)
“Digital Assessment of Gait and Speech in Parkinson’s Disease”. Major goals are to assess the ability of a wearable insole to accurately measure gait in Parkinson disease (PD) and detect clinically meaningful changes in gait in PD. - NIH/NICHD K01HD088762 (PI)
“Impact of Cognition on Balance and Gait Markers for FXTAS”. The major goal of this project is to provide an early detection model for Fragile X tremor/ataxia syndrome (FXTAS) using balance and gait markers and interacting cognitive and molecular factors. - Rush Schweppe Translational Science Consortium Pilot grant (PI): “Balance and Gait Biomarkers for Fragile X Tremor/Ataxia Syndrome (FXTAS)”
- Rush University Cohn Research Fellowship (PI)
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Publications
Recent select works
O’Keefe JA, Robertson E., McAsey, A, Swanson, M, Bernard, B, Berry-Kravis E, Hall DA. Cognitive function impacts gait, functional mobility and falls in Fragile X-Associated Tremor/Ataxia Syndrome; under revision review; Gait and Posture; 2018; DOI: 1016/j.gaitpost.2018.09.005
Berry-Kravis, E, Chin, J Hoffmann, A, Winston A, Stoner R, Lagorio L, Friedmann K, O’Keefe, JA. Long-Term Treatment of Niemann-Pick Type C1 Disease with Hydroxypropyl-Beta-Cyclodextrin; Pediatric Neurology. 2018 Mar;80:24-34. PMID: 29429782
Pal G, O'Keefe JA, Robertson E, Bernard B, Anderson S, Hall DA. Global cognitive function and processing speed are associated with gait and balance dysfunction in Parkinson's disease; J NeuroEng and Rehab. 2016. 13(1): 94-102.
Robertson E, Hall DA, McAsey AR, O’Keefe JA. Fragile X-associated Tremor/Ataxia Syndrome: Phenotypic comparisons with other Movement Disorders, Clin Neuropsychol. 2016; 30(6):849-900.
Hall DA, Robertson E, Shelton AL, Losh MC, Mila M, Moreno EG, Gomez-Anson B, Martínez-Cerdeño V, Grigsby J, Lozano R, Hagerman R, Santa Maria L, Berry-Kravis E, O’Keefe JA. 2016. Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers, Cerebellum; 2016;15:578-586.
O’Keefe JA, Robertson E, Hall DA and Berry-Kravis E. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome; Cerebellum; 2016;15(4):475-82.
Hall, DA, Robertson-Dick, E, O’Keefe JA, Hadd AG, Zhou L, Berry-Kravis E. Repeat Size and X-inactivation in the Clinical Phenotype of Fragile X Premutation Carrier Sisters; Neurol Genet. 2016; 2(1):e45. PMID: 27066582
Pal G, Robertson E, O’Keefe JA, Hall DA. The Cognitive and Motor Profile of GBA-associated Parkinson Disease: A Review; Movement Disorders: Clinical Practice, 2015; 3: 4–8.
O’Keefe JA, Robertson E, Dunn E, Li Y, Deng Y, Fiutko A, Berry-Kravis E, Hall DA. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X Associated Tremor/Ataxia Syndrome (FXTAS). Cerebellum, 2015; 14(6):650-62.
Hall DA, Birch R, Anheim M, Jonch A, Pintado E, O’Keefe, JA, Troller J, Hagermann RJ, Fahn S, Berry-Kravis, E, Leehey MA. Emerging topics in FXTAS. J. Neurodev Dis. 2014; 6: 31-41.
O’Keefe JA, Espinosa-Orias A , Khan H, Hall DA, Berry-Kravis E,Wimmer MA,. Implementation of a Novel Markerless Motion Analyses System to Quantify Hyperactivity in males with Fragile X Syndrome, Gait and Posture, 2014; 39 (2):827-30.
Hall DA, O'Keefe JA. Clinical Neurogenetics: Fragile X-associated tremor/ataxia syndrome. Neurol Clin. 2013; 31(4):1073-84.
Hall DA, O’Keefe JA. Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update of Treatment. Tremor Hyperkin Mov;2. Epub 2012; pii: tre-02-56-352-1. PMID: 23439567
Additional publications
Complete List of Published Work in MyBibliography.
Our Current Team
Emily R. Sullivan, BS (Medical Student)
Emily C. Timm, PhD (Post-Doctoral Fellow)
Annam Zaidi, MD (MS Student in Clinical Research)
Former Graduate Student
Nicollette Purcell
I am a graduate student in the Department of Cell & Molecular Medicine, working with Joan O’Keefe on my master’s thesis. My research is focused on patients with Huntington’s disease (HD), a movement disorder that impairs functional abilities, including gait and cognition. I will be measuring gait variables and cognitive function domains under single and dual-task conditions in individuals who are in the early stages of disease progression. Subjects will then be compared to age-matched controls to determine how HD quantitatively affects gait and cognitive function performance.
I received a BS in human biology from Michigan State University in 2013, and a BMS in pre-medical studies from Dominican University in 2014. Since then, I have been working as a certified nursing assistant caring for patients with HD and amyotrophic lateral sclerosis, and this experience has inspired me to pursue my graduate degree at Rush. It is my privilege to have the opportunity to work with Dr. O’Keefe, in collaboration with Dr. Jennifer Goldman, MD, at one of the nation’s best movement disorder centers.
Contact
Joan A. O’Keefe, PhD, PT
Associate Professor
Rush University
Department of Anatomy & Cell Biology
Office 505B Armour Academic Center
600 South Paulina St.
Chicago, IL 60612
Phone: (312) 563-3940
Email: joan_a_okeefe@rush.edu