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Article

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

Clinical genetics - 1 Mar 2026

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

Abstract excerpt

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.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41177915
DOI: 10.1111/cge.70095
PMCID: PMC12881212

Genes

RFC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease.PMID 41177915Read ↗

Association of biallelic RFC1 expansion with early-onset Parkinson's disease.Semantic proximity Read ↗

Parkinson’s disease and multiple system atrophy are gateways to <i>RFC1</i>-related disordersSemantic proximity Read ↗

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s diseaseSemantic proximity Read ↗

Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 ExpansionsSemantic proximity Read ↗

Profiling complex repeat expansions in RFC1 in Parkinson’s diseaseSemantic proximity Read ↗

Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.Semantic proximity Read ↗

RFC1: Motifs and phenotypes.Semantic proximity Read ↗

No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSASemantic proximity Read ↗

RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.Semantic proximity Read ↗

Heterozygous and Homozygous <i>RFC1 AAGGG</i> Repeat Expansions are Common in Idiopathic Peripheral NeuropathySemantic proximity Read ↗

<i>RFC1</i> repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic ratesSemantic proximity Read ↗

Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's diseaseSemantic proximity Read ↗

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