WP2: Cohorts

Main aim: Build two national cohorts of 1) early-onset with HD/SCA and 2) carriers of intermediate expansions in the HD/SCA genes, and subject these to a natural history and biomarker tracking study.

WP Leader: Bart van de Warrenburg (Radboudumc)

Objectives: Determine disease landscapes for SCA1, SCA3 and HD that are due to increased pathological CAG-repeat length using isogenic iPSC cell lines. Since CAG repeat length in patients typically explains about 50% of variance in onset of disease symptoms, we will first capture disease landscapes that are due to CAG-repeat length only use isogenic iPSC cell lines from two well characterized control cell lines.