Background and aims
Ataxias are rare diseases that, on average, affect only 4-8 out of every 100,000 persons, in the course of their lives. Many of the forms that strike early (starting age < 40) are known to be genetically caused. The Early Onset Ataxia Network is using the DZNE centers' network as a means of enabling as many ataxia patients as possible to be examined in accordance with common standards, to identify molecular causes, as a vehicle for improving our understanding of the causes of the disease and to prepare targeted therapies.
At participating DZNE sites, ataxia specialists examine patients, in order to determine the severity of their cases and to systematically document any additional symptoms.
The Early Onset Ataxia Registry (EOA), a DZNE network research project that is being led by the organization's Tübingen site, is using state-of-the-art procedures to look for new ataxia genes and biomarkers in persons with early onset ataxias, i.e. ataxias occurring in patients younger than 40. At the same time, data are being collected, comprehensively and systematically, about the natural course of early onset ataxias. A special focus is being placed on ataxias caused by disruptions of DNA-repair processes, disruptions which can be studied in white blood cells.
Cranial images will be made with MRI scans, using a standardized procedure, and the nerve conduction velocities in patients' arms, legs and spinal cords will be measured.
In cases in which no genetic causes have been identified, genetic testing for all known ataxia genes will be carried out. For those groups of cases in which the causes of the disease remain unclear, a search for new ataxia genes will be conducted, entailing sequencing of all gene regions that encode information for human-protein formation.
In addition, DNA-repair processes will be studied by cultivating white blood cells obtained from patients' blood samples, and then exploring their in-vitro reactions to DNA damage caused by radiation or chemical stress factors.
Principle Investigator: Prof. Dr. Ludger Schöls
Start of the study: 2012
Status: multi centric, ongoing, recruiting active
Study Coordination / Project Management
Prof. Dr. Ludger Schöls
PD Dr. Matthis Synofzik
Deutsches Zentrum für neurodegenerative Erkrankungen e.V. (DZNE) und
Hertie Institut für Neurodegenerative Erkrankungen, Universitätsklinikum Tübingen