Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia

Anna L Burt¹, Gilbert L'Italien², Susan L Perlman³, Liana S Rosenthal⁴, Sheng-Han Kuo⁵, Tetsuo Ashizawa⁶, Theresa Zesiewicz⁷, Cameron Dietiker⁸, Puneet Opal⁹, Antoine Duquette¹⁰, George R Wilmot¹¹, Vikram G Shakkottai¹², Christopher M Gomez¹³, Sharan R Srinivasan¹⁴, Henry Paulson¹⁴, Michael D Geschwind⁸, Sandie Worley⁵, Chiadi U Onyike⁴, Andrew Billnitzer⁶, Amy Ferng¹⁴, Kristen Matulis⁵, Marie Y Davis¹⁵, Sub H Subramony¹⁶, Anoopum Gupta¹, Christopher D Stephen¹, Jeremy D Schmahmann¹

Affiliations

¹ Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
² Biohaven Pharmaceuticals, New Haven, Connecticut, USA.
³ Department of Neurology, University of California, Los Angeles, California, USA.
⁴ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
⁵ Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
⁶ Stanley H. Appel Department of Neurology, Houston Methodist Hospital, Houston, Texas, USA.
⁷ Department of Neurology, University of South Florida, Tampa, Florida, USA.
⁸ Department of Neurology, University of California, San Francisco, California, USA.
⁹ Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
¹⁰ Service de Neurologie, Centre Hospitalier de l'Université de Montréal (CHUM), University of Montreal, Montreal, Quebec, Canada.
¹¹ Department of Neurology, Emory University, Atlanta, Georgia, USA.
¹² Department of Neurology and O'Donnell Brain Institute, UT Southwestern Medical Center, Dallas, Texas, USA.
¹³ Department of Neurology, University of Chicago, Chicago, Illinois, USA.
¹⁴ Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
¹⁵ Department of Neurology, University of Washington, Seattle, Washington, USA.
¹⁶ Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, Florida, USA.

PMID: 40035484
DOI: 10.1002/mds.30158

Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia

Anna L Burt et al. Mov Disord. 2025 May.

. 2025 May;40(5):917-927.

doi: 10.1002/mds.30158. Epub 2025 Mar 4.

Authors

Affiliations

¹ Ataxia Center, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
² Biohaven Pharmaceuticals, New Haven, Connecticut, USA.
³ Department of Neurology, University of California, Los Angeles, California, USA.
⁴ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
⁵ Department of Neurology, Columbia University Medical Center, New York City, New York, USA.
⁶ Stanley H. Appel Department of Neurology, Houston Methodist Hospital, Houston, Texas, USA.
⁷ Department of Neurology, University of South Florida, Tampa, Florida, USA.
⁸ Department of Neurology, University of California, San Francisco, California, USA.
⁹ Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
¹⁰ Service de Neurologie, Centre Hospitalier de l'Université de Montréal (CHUM), University of Montreal, Montreal, Quebec, Canada.
¹¹ Department of Neurology, Emory University, Atlanta, Georgia, USA.
¹² Department of Neurology and O'Donnell Brain Institute, UT Southwestern Medical Center, Dallas, Texas, USA.
¹³ Department of Neurology, University of Chicago, Chicago, Illinois, USA.
¹⁴ Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
¹⁵ Department of Neurology, University of Washington, Seattle, Washington, USA.
¹⁶ Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, Florida, USA.

PMID: 40035484
DOI: 10.1002/mds.30158

Abstract

Background: The Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) has been validated cross-sectionally but not longitudinally.

Objective: We aimed to validate PROM-Ataxia as a measure of patient experience of disease over time, examine overall and domain-specific progression, and test convergent validity with other clinical outcome assessments (COAs).

Methods: We derived PROM-Ataxia data from 176 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for the Study of Cerebellar Ataxia at baseline and 1 year. We classified patients' ataxia severity stage ("severity") according to the Friedreich's Ataxia Rating Scale Functional Staging into mild, moderate, and severe subgroups. Analyses of the entire cohort and by severity subgroup included internal consistency, sensitivity to disease severity, predictive modeling of score changes, correlations with COAs: Brief Ataxia Rating Scale, Scale for Assessment and Rating of Ataxia, Fatigue Severity Scale, Cerebellar Cognitive Affective Syndrome scale, EuroQol 5-Dimension, and responsiveness to disease progression.

Results: The PROM-Ataxia exhibited high internal consistency and correlated with other COAs. Scores demonstrated sensitivity to disease severity and evolving patient experience. Progression was sigmoidal, with the greatest change in moderate patients. Compared with other COAs, PROM-Ataxia captured the most change. Mental features worsened fastest in mild patients, physical in moderate patients, and activities of daily living in severe patients.

Conclusion: PROM-Ataxia is more sensitive to change than ataxia COAs, captures the evolution of patients' experience of disease over 1 year, and reveals domain-specific progression. Studies of larger cohorts and different ataxia diagnoses over longer periods may provide insights to further enhance clinical care and research. © 2025 International Parkinson and Movement Disorder Society.

Keywords: PROM‐ataxia; cerebellar cognitive affective syndrome; cerebellum; clinical outcome assessment; progression; spinocerebellar ataxia.

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References

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Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia

Affiliations

Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia

Authors

Affiliations

Abstract

References

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources