Gene/phenotype/disorder under study
TDP1 gene (#607198), Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) (OMIM #607250)
Abstract
We aim to establish an international cohort to study the clinical and phenotypic range of patients with pathogenic or likely pathogenic variants in the TDP1 gene. Pathogenic variants in TDP1 are traditionally linked to spinocerebellar ataxia with axonal neuropathy 1 (SCAN1), an autosomal recessive neurodegenerative disorder. However, emerging research indicates that TDP1-related disease may present with a wider spectrum, including early-onset neurodevelopmental delay and atypical neurological features. Our goals are to better define the clinical spectrum, describe neurological and developmental characteristics, and enhance understanding of disease variability. We are available for any further information.
Coordinating clinicians
Ayça Yiğit – ayca.yigit@ibg.edu.tr
Mert Pekerbaş – mert.pekerbas@ibg.edu.tr
Institution
Rare and Undiagnosed Diseases Research Group, Izmir Biomedicine and Genome Center (IBG) – Izmir, Türkiye
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No