Evidence map›Paper›PMID 41177915›Full record

ArticleClinical genetics2026

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

Anja Kovanda, Lara Šušmelj, Helena Jaklič, Tadeja Lukežič, Aleš Maver, Igor Petrovic, Natasa Dragasevic Miskovic, Marina Svetel, Valentino Rački, Vladimira Vuletič and 2 more

Abstract read
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Anja KovandaClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Lara ŠušmeljClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Helena JakličClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Tadeja LukežičClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Igor PetrovicNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Natasa Dragasevic MiskovicNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Marina SvetelNeurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Valentino RačkiDepartment of Neurology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Vladimira VuletičDepartment of Neurology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Ivana NovakovicInstitute of Human Genetics and Neurology Clinic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Funding

Slovenian Research and Innovation Agency (ARIS) J3-4517Slovenian Research and Innovation Agency (ARIS) P3-0326
6 · The paper itself

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.

Indexed as

DNA Repeat ExpansionGenetic Predisposition to DiseaseParkinson DiseaseReplication Protein CAdultAge of OnsetAllelesFemaleHumansMaleMiddle AgedPedigreeReplication Protein CRFC1 protein, human

Identifiers

PMID41177915
PMCPMC12881212

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.