Ethics Approval

The study was approved by the Mass General Brigham Institutional Review Board.

Consent to Participate

All participants underwent the informed consent process in accordance with the Ethical Principles and Guidelines for the Protection of Human Subjects of Research.

Consent to Publish

Consent to publish a participant’s data was included within the informed consent documents.

Competing Interests

The authors declare no competing interests.

Disclosures

O.E. Rowe was employed by Cognito Therapeutics at the time of analysis and drafting of the report.

F.S. Eichler receives consulting fees from Ionis Pharmaceuticals and SwanBio Therapeutics and grant support from National Tay-Sachs and Allied Diseases and Cystinosis Research Foundation and has received financial support from bluebird bio and Minoryx Therapeutics for the conduct of clinical trials.

J.D. Schmahmann is site PI for Biohaven Pharmaceuticals clinical trials NCT03701399 and NCT02960893; consults for Biohaven Pharmaceuticals; receives royalties from Oxford University Press, Elsevier, MacKeith Press, and Springer; and is the inventor of the Brief Ataxia Rating Scale, Cerebellar Cognitive Affective / Schmahmann Syndrome Scale, the Patient Reported Outcome Measure of Ataxia, and the Cerebellar Neuropsychiatry Rating Scale, which are licensed to the General Hospital Corporation. He is supported in part by the MINDlink foundation, the National Ataxia Foundation and the Raynor Cerebellum Project.

R.L. Barry has been employed by the National Institute of Biomedical Imaging and Bioengineering at the NIH, USA since January 2024. This article was co-authored by R.L. Barry in his personal capacity. The opinions expressed in the article are his own and do not necessarily reflect the views of the NIH, the Department of Health and Human Services, or the United States government.

C.D. Stephen has provided scientific advisory for SwanBio Therapeutics and received research funding from Sanofi-Genzyme for a study of video oculography in late-onset GM2 Gangliosidosis. His institution has received financial support from Sanofi-Genzyme, SwanBio Therapeutics and Encora Therapeutics and previously from Biogen and Biohaven, for the conduct of clinical trials. He has received honoraria from the American Academy of Neurology and The International Parkinson and Movement Disorders Society. He has received grant support from the National Institutes of Health K23 NS118045.