Parkinson's disease and multiple system atrophy are gateways to RFC1-related disorders
Violette Delforge, Giulia Coarelli, Eugénie Mutez, Anne‐Sophie Rolland, Anna Wissocq, A. Labudeck, C. Marzys, Nazha BOUCETTA, Luc Buée, David L Blum, Ana Marquès, Florence Démurger, Jean‐Philippe Azulay, Aymeric Lanore, PREDISTIM study group, , 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.
medRxiv · Aug 18, 2025 · PreprintGenetic & Genomic Medicine