Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes Article Swipe
Pilar Garcés
,
Chrystalina A. Antoniades
,
Anna Sobańska
,
Norbert Kovács
,
Sarah H. Ying
,
Anoopum S. Gupta
,
Susan Perlman
,
David J. Szmulewicz
,
Chiara Pane
,
Andrea H. Németh
,
Laura Bannach Jardim
,
Giulia Coarelli
,
Michaela Daňková
,
Andreas Traschütz
,
Alexander A. Tarnutzer
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1007/s12311-023-01514-8
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1007/s12311-023-01514-8
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s12311-023-01514-8
- https://link.springer.com/content/pdf/10.1007/s12311-023-01514-8.pdf
- OA Status
- hybrid
- Cited By
- 11
- References
- 96
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4316097150
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Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4316097150Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1007/s12311-023-01514-8Digital Object Identifier
- Title
-
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific GenotypesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-01-14Full publication date if available
- Authors
-
Pilar Garcés, Chrystalina A. Antoniades, Anna Sobańska, Norbert Kovács, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz, Chiara Pane, Andrea H. Németh, Laura Bannach Jardim, Giulia Coarelli, Michaela Daňková, Andreas Traschütz, Alexander A. TarnutzerList of authors in order
- Landing page
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https://doi.org/10.1007/s12311-023-01514-8Publisher landing page
- PDF URL
-
https://link.springer.com/content/pdf/10.1007/s12311-023-01514-8.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://link.springer.com/content/pdf/10.1007/s12311-023-01514-8.pdfDirect OA link when available
- Concepts
-
Spinocerebellar ataxia, Ataxia, Eye movement, Saccadic masking, Medicine, Disease, Audiology, Psychology, Physical medicine and rehabilitation, Internal medicine, Neuroscience, OphthalmologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 5, 2023: 2Per-year citation counts (last 5 years)
- References (count)
-
96Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| primary_location.pdf_url | https://link.springer.com/content/pdf/10.1007/s12311-023-01514-8.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | The Cerebellum |
| primary_location.landing_page_url | https://doi.org/10.1007/s12311-023-01514-8 |
| publication_date | 2023-01-14 |
| publication_year | 2023 |
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