Biallelic <scp> <i>RFC1</i> </scp> Expansions Are a Rare Cause of Early‐Onset and Familial Parkinson's Disease
Biallelic pathogenic expansions in RFC1 contribute to the genetic etiology of PD, with a frequency similar to that of other known autosomal recessive PD genes. RFC1-positive PD is currently not clinically distinguishable from RFC1-negative PD, but genetic background may play a role in future therapies or other interventions.
Authors
- Ivan Petrović (ORCID: https://orcid.org/0000-0001-9961-5627)
- Helena Jaklič (ORCID: https://orcid.org/0009-0002-6833-4763)
- Aleš Maver (ORCID: https://orcid.org/0000-0002-9826-0534)
- Tadeja Lukežič
- Marina Svetel (ORCID: https://orcid.org/0000-0003-4900-4865)
- Nataša Mišković (ORCID: https://orcid.org/0000-0001-9706-6257)
- Ivana V. Novaković (ORCID: https://orcid.org/0000-0003-0202-0673)
- Vladimira Vuletić (ORCID: https://orcid.org/0000-0002-7857-857X)
- Anja Kovanda (ORCID: https://orcid.org/0000-0002-7468-878X)
- Valentino Rački (ORCID: https://orcid.org/0000-0003-3246-0506)
- Borut Peterlin
- Lara Šušmelj
Institutions
- University of Ljubljana (SI)
- University of Rijeka (HR)
- Ljubljana University Medical Centre (SI)
- University of Belgrade (RS)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-11-02
- DOI
- https://doi.org/10.1111/cge.70095
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00