SCA Registry
Registry for Spinocerebellar Ataxies (SCA)
Background and aims
Spinocerebellar Ataxies (SCA) are autosomal dominant inherited ataxia diseases. The SCA Registry builds on the EUROSCA and RISCA cohort studies funded by the EU since 2004. It includes high-risk individuals and patients with manifest ataxia of all SCA genotypes including the more common polyglutamine SCAs (SCA1, SCA2, SCA3, SCA6).
The objectives of the SCA Registry are to characterise the natural progression of the disease, identify prognostic factors and develop new imaging and biochemical biomarkers. By including risk persons, special emphasis is given to the investigation of the pre-clinical phase of the disease. The studies conducted under the SCA Registry are an immediate preparation of ongoing and future treatment studies.
Further information and contact data are available here.
Study participation
If you would like to take part in this study, please contact a study team in your area. You will find the contact details in the list of participating sites.
Principle Investigator: PD Dr. Jennifer Faber
Status: multi centric, ongoing, recruiting active
Study Coordination / Project Management
Publications
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum. 2024 Aug;23(4):1521-1529. doi: 10.1007/s12311-024-01659-0. Epub 2024 Feb 16. Erratum in: Cerebellum. 2024 Aug;23(4):1530-1531. doi: 10.1007/s12311-024-01681-2. PMID: 38363498; PMCID: PMC11269395.
Jacobi H, Schaprian T, Beyersmann J, Tezenas du Montcel S, Schmid M, Klockgether T; EUROSCA and RISCA Study Groups. Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6. Ann Clin Transl Neurol. 2022 Feb 21; 9 (3); 286-295. doi: 10.1002/acn3.51515.
Grobe-Einsler M, Taheri Amin A, Faber J, Schaprian T, Jacobi H, Schmitz-Hübsch T, Diallo A, Tezenas du Montcel S, Klockgether T. Development of SARAhome , a New Video-Based Tool for the Assessment of Ataxia at Home. Mov Disord. 2021 Jan 12; 36(5); 1242-1246. doi: 10.1002/mds.28478.