Evidence map›Paper›PMID 40802152›Full record

ArticleJournal of applied genetics2026

Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.

Tomczuk Filip, Ziora-Jakutowicz Karolina, Dominik Natalia, Houlden Henry, Cortese Andrea, Rutkowska Karolina, Pollak Agnieszka, Ploski Rafal, Janik Piotr, Elert-Dobkowska Ewelina and 1 more

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Article in Journal of applied genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Tomczuk FilipDepartment of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, Warsaw, 02-957, Poland. ftomczuk@ipin.edu.pl.
Ziora-Jakutowicz KarolinaGenetic Counseling Unit, Institute of Psychiatry and Neurology, Warsaw, Poland.
Dominik NataliaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Houlden HenryDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Cortese AndreaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Rutkowska KarolinaDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Pollak AgnieszkaDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Ploski RafalDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Janik PiotrDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Elert-Dobkowska EwelinaDepartment of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, Warsaw, 02-957, Poland.
Sulek AnnaFaculty of Medicine, Lazarski University, Warsaw, Poland.

Funding

Ministerstwo Edukacji i Nauki 501-39-055-23006
6 · The paper itself

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative ataxic disorder, which has been associated with intronic biallelic repeat expansions in the RFC1 gene. Our objective was to assess retrospectively the prevalence of CANVAS in Polish population. We screened 2523 Polish patients in whom other repeat expansions were excluded. To determine the repeat expansions in the RFC1 gene in patients, we performed RFC1-flanking PCR and repeat primed PCR (RP-PCR) and to measure the size of the expansion we used Southern blotting and optical genome mapping to compare the results. We have observed the biallelic pathogenic motif/unit AAGGG expansions in 4.6% and expansions of non-pathogenic motifs AAAAG, AAAGG in 25% patients of our studied population. This is the first large-scale cohort study that confirms the relatively frequent occurrence of the CANVAS in Polish population. To increase the current diagnostics of late-onset ataxias within an unexplained molecular background, we suggest involving the RFC1 repeat expansions analysis to the routine diagnostic workflow.

Indexed as

Bilateral VestibulopathyCerebellar AtaxiaDNA Repeat ExpansionIntronsReplication Protein CAdultAgedFemaleHumansMaleMiddle AgedPolandPrevalenceRetrospective StudiesReplication Protein CRFC1 protein, humanAdult-onset ataxiaCANVASOptical genome mappingRepeat expansionRFC1

Identifiers

PMID40802152
PMCPMC13534201

What Socratic holds

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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 Socratic graph.