Evidence map›Paper›PMID 40111638›Full record

SynthesisCerebellum (London, England)2025

The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing.

Maja Szymanska Heydel, Felix Heindl, Annette Hartmann, Max Borsche, Andreas Traschütz, Dominik Straumann, Michael Strupp, Alexander Andrea Tarnutzer

Abstract readSystematic ReviewMeta-Analysis
In one paragraph

Synthesis in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. 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

8 authors.

Maja Szymanska HeydelNeurology, Cantonal Hospital of Baden, Baden, 5404, Switzerland.
Felix HeindlDepartment of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.
Annette HartmannDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health (C3NMH), Medical University of Vienna, Vienna, Austria.
Max BorscheInstitute of Neurogenetics, University of Lübeck and University Hospital Schleswig- Holstein, Campus Lübeck, Lübeck, Germany.
Andreas TraschützResearch Division "Translational Genomics of Neurodegenerative Diseases", Hertie- Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Dominik StraumannFaculty of Medicine, University of Zurich, Zurich, Switzerland.
Michael StruppDepartment of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.
Alexander Andrea TarnutzerNeurology, Cantonal Hospital of Baden, Baden, 5404, Switzerland. alexander.tarnutzer@access.uzh.ch.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebellar ataxia, neuropathy, vestibular-areflexia syndrome (CANVAS) has been linked to biallelic intronic repeat-expansions in RFC1. Video-head-impulse testing (vHIT) offers a quantitative assessment of the angular vestibulo-ocular reflex (aVOR) of all three canals. We evaluated patterns of peripheral-vestibular impairment, its change over time and evaluated correlations with other parameters. PubMed/Embase were searched for articles reporting vHIT in patients with CANVAS/RFC1-related ataxia. A multiple linear-regression model was used to analyse relationships between vHIT-gains and clinical parameters (age, disease duration, sex, biallelic RFC1 expansion). A special focus was put on sequential vHIT in individual patients. 23/64 studies met inclusion criteria; additional 13 studies were identified through reference screening. Twenty-five studies reported individual vHIT-gains and demographic data, suitable for quantitative analysis. Substantial aVOR-gain reductions were found for horizontal (0.32 ± 0.02, n = 146 patients), anterior (0.39 ± 0.03, n = 27) and posterior (0.29 ± 0.03, n = 27) canals. Linear regression showed an association between horizontal vHIT-gains (n = 146 patients; range of gain: 0-1.3) and disease duration (range: 0-444 months, coef. =-0.0048, p = 0.031) and male sex (coef. =-0.1604, p < 0.001). A decline in horizontal-canal vHIT-gains at least one side over time was noted in 15/21 patients after a mean follow-up time of 33.4 ± 10.7 months. vHIT is a potential biomarker for monitoring progression of CANVAS/RFC1-related ataxia. The significant association between reduced vHIT-gains and disease duration, and their intra-individual decline over time emphasize that impairment of the aVOR reflects the underlying neurodegenerative disease process. Multi-centre prospective studies are needed for systematic early screening and longitudinal validation as outcome for future targeted therapy trials.

Indexed as

Cerebellar AtaxiaHead Impulse TestVestibular DiseasesFemaleHumansMaleReflex, Vestibulo-OcularCerebellumEye movement recordingsHereditary ataxiaRFC1Systematic reviewVestibulo-ocular reflex

Identifiers

PMID40111638
PMCPMC11926034

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.