Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6) (RISCA)
RISCA aimed to study the preclinical stage of the most common spinocerebellar ataxias (SCAs): SCA1, SCA2, SCA3 and SCA6. Over 250 relatives of patients with SCA were enrolled into the study from 2008-2011, via referral from patients with SCA1, SCA2, SCA3 or SCA6 who regularly attended 1 of 14 study centres in Germany. Participating individuals had to have no ataxia and be aged 18–50 years if directly related to individuals with SCA1, SCA2, or SCA3, or 35–70 years if directly related to individuals with SCA6. Participants were followed at 24 month intervals for 6 years, and then at irregular intervals following this.
Study design
Cohort
Number of participants at first data collection
237 (SCA1, SCA2 and SCA3 participants)
27 (SCA6 participants)
Age at first data collection
18 - 50 years (SCA1, SCA2 and SCA3 participants)
35 - 70 years (SCA6 participants)
Participant year of birth
Varied (SCA1, SCA2 and SCA3 participants)
Varied (SCA6 participants)
Participant sex
All
Representative sample at baseline?
No
Sample features
Country
Year of first data collection
2008
Primary Institutions
University Hospital Bonn (Universitätsklinikum Bonn, UKB)
Links
Profile paper DOI
Funders
ERA-Net E-Rare (now known as European Joint Programme on Rare Diseases)
Ministry of Science and Higher Education
Ongoing?
No
Data types collected
- Audio or visual recordings (e.g. of child behaviour, facial expressions)
- Interview – face-to-face
- Physical or biological assessment (e.g. blood, saliva, gait, grip strength, anthropometry)
- None
- Magnetic Resonance Imaging (MRI)
- None
Engagement
Keywords
