Harriet and Joe B. Foster Distinguished Chair in Neurosciences, Stanley H. Appel Department of Neurology
Professor of Neurology, Institute for Academic Medicine
Director, Neurosciences Research Program
Weill Cornell Medical College
Tetsuo Ashizawa, MD, is a physician-scientist and organizes and develops interdisciplinary neuroscience research programs involving multiple colleges and departments at Houston Methodist. Formerly the executive director of the McKnight Brain Institute at the University of Florida, he also chaired the neurology department at the University of Texas Medical Branch and at the University of Florida, where he supervised the clinical care of and research in a variety of neurological disorders. He studies neurogenetic disorders caused by expansions of DNA sequences that are connected end-to-end and abnormally repeated, such as myotonic dystrophies, spinocerebellar ataxias, Friedreich’s ataxia, and Huntington’s disease. Dr. Ashizawa will oversee the entire operation of this international study and chair the Steering Committee.
Professor and Neurogenetecist
ICM – Institut du Cerveau et de la Moelle Epinière
Alexandra Durr, MD, PhD, is a university professor and consultant at the Hôpital de la Pitié-Salpêtrière in Paris and a member of the Executive Committee of the Ataxia Study Group. She specializes in neurology and genetics and has been developing translational neurogenetics for 25 years, based on a thorough clinical expertise that allowed her to identify the molecular bases of many pathologies. Dr. Durr is a renowned expert of late-onset hereditary neurological diseases. She worked with premanifest individuals, i.e. mutation carriers without clinical signs of the disease, since 1992, pioneering the first presymptomatic structure in France. Her research interests are phenotypic expression and therapeutic approaches of genetic disorders focused on cerebellar ataxias, spastic paraplegias and inherited conditions of other movement disorders. She will analyze data from early-stage and premanifest subjects with the SCA1 or SCA3 mutation during Aim 2 and will lead Aim 3.
Director of Clinical Sciences, German Center for Neurodegenerative Diseases
Dean of Medical Faculty, Professor and Chair, Department of Neurology, University Hospital Bonn
Thomas Klockgether, MD, is an accomplished clinical scientist who has made pivotal contributions to the clinical characterization of spinocerebellar ataxias. He works to translate research insights into new therapies and preventive strategies. His research interests also include Parkinson’s disease and dementias such as Alzheimer’s disease. Dr. Klockgether will be the key European investigator who connects the EUROSCA/ESMI database and the CRC-SCA database in Aim 1 and will be critical in execution of the multi-site MRI study and centralized analysis at UMN in Aim 2.
Professor, Department of Radiology, Center for Magnetic Resonance Research
University of Minnesota
Gulin Oz, PhD, is an expert on in vivo MRI and MRS biomarkers of neurodegeneration, with a particular focus on spinocerebellar ataxias, in addition to Parkinson’s, Huntington’s and Alzheimer’s diseases. She uses high field, multi-nuclear magnetic resonance spectroscopy (MRS) to explore neurochemical and metabolic alterations in diseases that affect the brain and spearheaded utilization of neurochemical profiles to assess cerebral changes in patients with neurological diseases and their response to treatment. For this study, Oz will provide the MRI/MRS protocol to the other imaging sites, guide its implementation and ensure that the MR data are acquired in a timely manner by regular communications with other site directors.
Lucile Groff Professor of Neurology
Director, Alzheimer’s and Related Dementias
University of Michigan
Henry Paulson, MD, has contributed to advances in the understanding of various neurodegenerative diseases. His research and clinical interests concern the causes and treatment of age-related neurodegenerative diseases, with an emphasis on polyglutamine diseases, Alzheimer’s disease and frontotemporal dementia. In 1997, his lab described abnormal protein aggregates in the polyglutamine diseases, which now are recognized as a pathological hallmark in this important class of inherited diseases. Dr. Paulson will co-chair the Steering Committee for this project and will inform the group on the development of therapeutics for SCA3 and assess the readiness of the citalopram and antisense oligonucleotides for clinical trials.