Autosomal-Recessive Cerebellar 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. Following the autosomal-dominant ataxias (SCAs), autosomal-recessive ataxias are the next common group of hereditary ataxias. Many of the forms that strike early (starting age < 40) (=early-onset ataxias) are known to be caused by autosomal-recessive genes. The Autosomal-Recessive Cerebellar 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 Autosomal Recessive Cerebellar Ataxia Registry (ARCA registry), 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 autosomal-recessive or 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 autosomal-recessive and 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

Cerebral 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 Investigators: Prof. Dr. Ludger Schöls & Prof. Dr. Matthis Synofzik
Start of the study: 2012
Status: multi centric, ongoing, recruiting active

Study Coordination / Project Management
Prof. Dr. Ludger Schöls (Principle Investigator 1)
Prof. Dr. Matthis Synofzik (Principle Investigator 2)

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


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