EOA

Early Onset Ataxias

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.

Overview

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.

Course of the study

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
Hoppe-Seyler-Straße 3
72076 Tübingen

+49 7071 29-82057
+49 7071 29-4254
Ludger.Schoels@dzne.de
Matthis.Synofzik@uni-tuebingen.de

Participating sites

Bonn

DZNE
Local principle investigator:

Prof. Dr. Thomas Klockgether
Local contact:
+49 228 287-15726

Magdeburg

DZNE
Otto-von-Guericke-Universität Magdeburg
- Universitätsklinik für Neurologie
Local principle investigator:
Prof. Dr. Stefan Vielhaber
Local principle investigator:
+ 49 391 672-4600

Munich

DZNE
Friedrich-Baur-Institut an der Neurologischen Klinik

Local principle investigator:
Prof. Dr. Thomas Klopstock
Local contact: 
+49 89 4400-57400

Rostock/Greifswald

DZNE
Universitätsmedidzin Rostock
- Klinik und Poliklinik für Neurologie
Local principle investigator:
PD Dr. Christoph Kamm
Local contact:
+49 381 494-4763

Tübingen

DZNE
Universitätsklinikum Tübingen
- Zentrum für Neurologie, Abteilung Neurodegenerative Erkrankungen
Local principle investigator:
Prof. Dr. Ludger Schoels
Local contact:
+49 7071 298-6529

Info-Hotline

Thursdays 1:30-4:30 pm

Patients +49 800-7799001

(free of charge)

Professionals +49 180-779900

(9 Cent/Min. German landline, mobile and out of Germany possibly more expensive)

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