Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
- Continuously recruit and phenotypically characterize NDD/NMD patients with a specific emphasis on patients with an unknown genetic basis or modifiers.
- Obtain biomaterials, store them, and make available for gene identification, biomarker studies and integration into family registries.
- Continuously recruit and phenotypically characterize patients and pre-symptomatic gene carriers with FTLD and SCA for identification of early diagnostic biomarkers.
- Longitudinally follow the FTLD and SCA study participants and repeatedly obtain biomaterials that can be used for biomarker development and validation.