Work

Biallelic RFC1 Expansions Are a Rare Cause of Early‐Onset and Familial Parkinson's Disease

Year: 2025

Type: article

Abstract: 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.

Source: Clinical Genetics

DOI: 10.1111/cge.70095

Authors: Anja Kovanda, Lara Šušmelj, Helena Jaklič, Tadeja Lukežič, Aleš Maver, Igor Petrovic, Natasa Dragasevic Miskovic, Marina Svetel, Valentino Rački, Vladimira Vuletič, Ivana Novakovic, Borut Peterlin

Institutions: University of Ljubljana, Ljubljana University Medical Centre, University of Belgrade, University of Rijeka

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,980

OpenAlex ID: W4415779856

FWCI: 0.564

Cites: 5

Cited by: 1

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