Evidence map›Paper›PMID 38381176›Full record

ArticleJournal of neurology2024

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

David Pellerin, Felix Heindl, Andreas Traschütz, Dan Rujescu, Annette M Hartmann, Bernard Brais, Henry Houlden, Claudia Dufke, Olaf Riess, Tobias Haack and 2 more

Registry-linked trialOpen access · hybridAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07709143 (The Clinical Trial Protocol), which is not on this map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 15% of its field
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.

NCT07709143 recruitingnot on this map

The Clinical Trial Protocol: MRI Performance and Risk Factors of Bilateral Vestibular Hypofunction: A Multi-center Cross-sectional Study

TypeobservationalSponsorShanghai 6th People's HospitalRan2024 to 2029Enrolled120ConditionsBilateral Vestibular Hypofunction, Bilateral Vestibulopathy, PresbyvestibulopathyArmsMultimodal Neuroimaging and Vestibular Function Assessment
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Review
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 at 6 institutions in 4 countries.

David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Felix HeindlDepartment of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.
Andreas TraschützDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Dan RujescuDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna, Austria.
Annette M HartmannDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna, Austria.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Claudia DufkeInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Michael Strupp *Department of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.
Matthis Synofzik *Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany. matthis.synofzik@uni-tuebingen.de.ORCID http://orcid.org/0000-0002-2280-7273
University of Tübingen · DEGerman Center for Neurodegenerative Diseases · DELudwig-Maximilians-Universität München · DEMedical University of Vienna · ATMontreal Neurological Institute and Hospital · CANational Hospital for Neurology and Neurosurgery · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

objectivesThe cause of downbeat nystagmus (DBN) remains unknown in a substantial number of patients ("idiopathic"), although intronic GAA expansions in FGF14 have recently been shown to account for almost 50% of yet idiopathic cases. Here, we hypothesized that biallelic RFC1 expansions may also represent a recurrent cause of DBN syndrome.

methodsWe genotyped the RFC1 repeat and performed in-depth phenotyping in 203 patients with DBN, including 65 patients with idiopathic DBN, 102 patients carrying an FGF14 GAA expansion, and 36 patients with presumed secondary DBN.

resultsBiallelic RFC1 AAGGG expansions were identified in 15/65 patients with idiopathic DBN (23%). None of the 102 GAA-FGF14-positive patients, but 2/36 (6%) of patients with presumed secondary DBN carried biallelic RFC1 expansions. The DBN syndrome in RFC1-positive patients was characterized by additional cerebellar impairment in 100% (15/15), bilateral vestibulopathy (BVP) in 100% (15/15), and polyneuropathy in 80% (12/15) of cases. Compared to GAA-FGF14-positive and genetically unexplained patients, RFC1-positive patients had significantly more frequent neuropathic features on examination and BVP. Furthermore, vestibular function, as measured by the video head impulse test, was significantly more impaired in RFC1-positive patients. DISCUSSION: Biallelic RFC1 expansions are a common monogenic cause of DBN syndrome.

Indexed as

Nystagmus, PathologicPhenotypeReplication Protein CAdultAgedBilateral VestibulopathyDNA Repeat ExpansionFemaleFibroblast Growth FactorsHumansMaleMiddle AgedYoung Adultfibroblast growth factor 14Fibroblast Growth FactorsReplication Protein CRFC1 protein, humanBilateral vestibulopathyCANVASCerebellar ataxiaFGF14GAA-FGF14 ataxiaSCA27B

Identifiers

PMID38381176
PMCPMC11055689
OpenAlexW4391995407

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.