Genetic & Genomic MedicinemedRxivPreprint
Parkinson's disease and multiple system atrophy are gateways to RFC1-related disorders
Violette Delforge, Giulia Coarelli, Eugénie Mutez…·Vincent Huin
The paper screens patients with parkinsonism for RFC1 gene expansions and finds that Parkinson's disease and multiple system atrophy can be gateways to RFC1-related disorders.
DOI 10.1101/2025.08.18.25332961