Genetic & Genomic MedicinemedRxivPreprint
Dystonia-Parkinsonism Gene Variants in Individuals with Parkinsonism and Brain Scans without Evidence for Dopaminergic Deficit (SWEDD)
Kelly Nicole Holohan Nudelman, Yajing Yan Yan Xiong, Lola P. Cook…·The Parkinson’s Progression Markers Initiative
This study identifies pathogenic variants in dystonia-parkinsonism genes in 12.5% of SWEDD cases in the PPMI cohort, highlighting the importance of genetic testing in this patient group.