Evidence map›Paper›PMID 41055766›Full record

ArticleJournal of neurology2025

Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.

Leonardo E Ariello, Daniel R Gold, Jennifer L Millar, Michael C Schubert, Weiyi Mu, Liana Rosenthal, David P W Rastall

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Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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

  1. Pooled it
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  3. Article
  4. 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

7 authors.

Leonardo E ArielloDepartment of Neurology, The Johns Hopkins School of Medicine, 600 N Wolfe St, Pathology 2-210, Baltimore, MD, 21287, USA. lariell1@jh.edu.ORCID http://orcid.org/0000-0002-7031-2419
Daniel R GoldDepartments of Neurology, Ophthalmology, Otolaryngology-Head and Neck Surgery, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Jennifer L MillarDepartments of Physical Medicine and Rehabilitation, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Michael C SchubertDepartments of Physical Medicine and Rehabilitation, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Weiyi MuDepartment of Neurology, The Johns Hopkins School of Medicine, 600 N Wolfe St, Pathology 2-210, Baltimore, MD, 21287, USA.
Liana RosenthalDepartment of Neurology, The Johns Hopkins School of Medicine, 600 N Wolfe St, Pathology 2-210, Baltimore, MD, 21287, USA.
David P W RastallDepartment of Neurology, The Johns Hopkins School of Medicine, 600 N Wolfe St, Pathology 2-210, Baltimore, MD, 21287, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRFC1-related CANVAS and FGF14-related SCA27B are recently recognized genetic causes of late-onset cerebellar ataxia (LOCA). Despite advances in genetic testing, most panels do not detect these intronic repeat expansions, often resulting in repeated testing, delayed diagnosis, and greater patient burden. Vestibular dysfunction is common in both disorders and may help differentiate them from idiopathic LOCA (ILOCA) subtypes, guiding targeted genetic testing.

objectivesTo evaluate whether vestibulo-ocular reflex (VOR) gain measured by video head impulse test (vHIT) can differentiate CANVAS and SCA27B from ILOCA.

methodsWe reviewed 290 records of individuals with suspected cerebellar ataxia at the Johns Hopkins Ataxia Center (2023-2025). VOR gains were assessed using vHIT and compared across groups. Diagnostic thresholds were determined using receiver operating characteristic curves, with significance set at p < 0.05.

resultsFifth-nine participants were included: 10 CANVAS, 33 SCA27B, and 16 ILOCA, and matched with 31 controls. Bilateral vestibulopathy (VOR gain < 0.6) was present in 80% of CANVAS, 18% of SCA27B, and none of ILOCA (p = 0.024). Mean horizontal VOR gains were significantly lower in CANVAS (0.22) and SCA27B (0.85) than in ILOCA (1.11; p < 0.001). VOR gains < 0.70 differentiated CANVAS/SCA27B from ILOCA (100% specificity, 44% sensitivity), while a threshold of 0.50 distinguished CANVAS from SCA27B (91% specificity and 70% sensitivity). DISCUSSION: Reduced VOR gains were common in both CANVAS and SCA27B, and not observed in ILOCA. vHIT metrics may assist in distinguishing these genetic ataxias from ILOCA and each other, supporting potential utility as physiologic biomarkers and guiding targeted genetic testing.

Indexed as

Cerebellar AtaxiaFibroblast Growth FactorsHead Impulse TestReflex, Vestibulo-OcularReplication Protein CAgedDiagnosis, DifferentialFemaleHumansMaleMiddle Agedfibroblast growth factor 14Fibroblast Growth FactorsReplication Protein CRFC1 protein, humanBilateral vestibulopathyCerebellar ataxiaFGF14RFC1Video head impulse test

Identifiers

PMID41055766

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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 OpenQuestion graph.