These neurodegenerative diseases are caused by neuronal dysfunction and subsequent neuronal cell death. The extremely heterogeneous group of progressive movement disorders, such as loss of balance and motor co-ordination of the arms and legs, usually set in when a person is in their 20s or 30s. A cure is currently unavailable.
"As the prevalence of SCA in Europe is assumed to be less than 1:10.000 and SCAs show a high clinical and genetic heterogeneity, it is difficult to collect a large number of patients. Only a concerted European action will allow major progress in collecting large patient groups necessary for conclusive data on disease progression and therapeutic success, and to decipher the pathogenesis of SCA subtypes", explained a spokesperson from the University of Tübingen, one of the 22 research groups from nine European countries taking part in the programme.
Basing itself on a newly developed set of clinical data, Eurosca will characterise these patients. Through the use of clinical rating scales, structural imaging in forms of longitudinal volumetric MRI studies, and detailed electrophysiological evaluation, Eurosca will produce the largest and best characterised collection of SCA-patients setting standards to be adapted by clinicians the world over.
The creation of the world's largest collection of information on SCA, the European SCA Registry (Eurosca-R), will ensure standardised data acquisition. This powerful tool will facilitate continuous recruitment of SCA patients throughout Europe for linkage analysis, identification of novel ataxia genes and natural history studies.
Such a combined effort will offer a systematic large-scale search for genetic modifier factors in SCA, allowing for a better comprehension of factors accounting for wide clinical variability. This, it is hoped, will help in the search for a better diagnosis. The project will also search for additional genetic factors, such as modifier genes, with the aim of delaying the age at onset and disease progression.
Eurosca will also implement research projects to generate and characterise cellular and transgenic models, which will allow a more defined study of the pathogenesis and will serve as a tool for initial therapeutic studies. More information is available at the Eurosca project Web site.