Evidence map›Paper›PMID 36640220›Full record

ArticleCerebellum (London, England)2024

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.

Pilar Garces, Chrystalina A Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H Ying, Anoopum S Gupta, Susan Perlman, David J Szmulewicz, Chiara Pane, Andrea H Németh and 5 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 5 pooled it
2.1field-weighted citation impact, top 14% 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.

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

11 citing papers in PubMed, 5 syntheses or guidelines pooled it, 14 citations in OpenAlex.

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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

15 authors at 13 institutions in 11 countries.

Pilar GarcesRoche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, Basel, Switzerland.
Chrystalina A AntoniadesNeuroMetrology Lab, Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, OX3 9DU, UK.
Anna SobanskaDepartment of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland.
Norbert KovacsDepartment of Neurology, Medical School, University of Pecs, Pecs, Hungary.
Sarah H YingDepartment of Otology and Laryngology and Department of Neurology, Harvard Medical School, Boston, MA, USA.
Anoopum S GuptaDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Susan PerlmanUniversity of California Los Angeles, Los Angeles, CA, USA.
David J SzmulewiczBalance Disorders and Ataxia Service, Royal Victoria Eye and Ear Hospital, East Melbourne, Melbourne, VIC, 3002, Australia.
Chiara PaneDepartment of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.
Andrea H NémethNuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Laura B JardimDepartamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Giulia CoarelliInstitut du Cerveau-Paris Brain Institute-ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université, Paris, France.
Michaela DankovaDepartment of Neurology, Centre of Hereditary Ataxias, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Andreas TraschützResearch Division "Translational Genomics of Neurodegenerative Diseases," Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Alexander A TarnutzerCantonal Hospital of Baden, Baden, Switzerland. alexander.tarnutzer@access.uzh.ch.
Harvard University · USUniversity of Oxford · GBFlorey Institute of Neuroscience and Mental Health · AUInstitute of Psychiatry and Neurology · PLKantonsspital Baden · CHPitié-Salpêtrière Hospital · FRRoche (Switzerland) · CHUniversidade Federal do Rio Grande do Sul · BRUniversity Hospital in Motol · CZUniversity of California, Los Angeles · USUniversity of Naples Federico II · ITUniversity of Pecs · HUUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically confirmed or suspected hereditary ataxias, asking which paradigms are most promising for capturing disease progression and treatment response. Eighty-nine manuscripts identified reported on 1541 patients, including spinocerebellar ataxias (SCA2, n = 421), SCA3 (n = 268), SCA6 (n = 117), other SCAs (n = 97), Friedreich ataxia (FRDA, n = 178), Niemann-Pick disease type C (NPC, n = 57), and ataxia-telangiectasia (n = 85) as largest cohorts. Whereas most studies reported discriminatory power of oculomotor assessments in diagnostics, few explored their value for monitoring genotype-specific disease progression (n = 2; SCA2) or treatment response (n = 8; SCA2, FRDA, NPC, ataxia-telangiectasia, episodic-ataxia 4). Oculomotor parameters correlated with disease severity measures including clinical scores (n = 18 studies (SARA: n = 9)), chronological measures (e.g., age, disease duration, time-to-symptom onset; n = 17), genetic stratification (n = 9), and imaging measures of atrophy (n = 5). Recurrent correlations across many ataxias (SCA2/3/17, FRDA, NPC) suggest saccadic eye movements as potentially generic quantitative oculomotor outcome. Recommendation of other paradigms was limited by the scarcity of cross-validating correlations, except saccadic intrusions (FRDA), pursuit eye movements (SCA17), and quantitative head-impulse testing (SCA3/6). This work aids in understanding the current knowledge of quantitative oculomotor parameters in hereditary ataxias, and identifies gaps for validation as potential trial outcome measures in specific ataxia genotypes.

Indexed as

Ataxia TelangiectasiaFriedreich AtaxiaSpinocerebellar DegenerationsAtaxiaDisease ProgressionEye MovementsGenotypeHumansEye movement recordingsHereditary ataxiaOculomotorRecommendationsSystematic reviewVestibular

Identifiers

PMID36640220
PMCPMC10864420
OpenAlexW4316097150

What OpenQuestion 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 OpenQuestion graph.