Cerebellar Atrophy in Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome
BACKGROUND AND OBJECTIVES: Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebellar atrophy, as well as associated risk factors and functional outcome measures, using the largest active POOMAS registry. METHODS: This was a retrospective observational study of participants with POOMAS with disease onset from 1995 to 2025 using data from the multinational, multicenter POOMAS registry. Variables were compared between the cerebellar atrophy subgroups using the Fisher exact test or Wilcoxon rank-sum test. RESULTS: = 0.023), but not with other demographic or clinical characteristics. There were no statistically significant differences in functional outcome measures or educational setting. DISCUSSION: The overall frequency of cerebellar atrophy was likely underestimated in this study because of the lack of standardized MRI timing and the large number of patients without MRI scans beyond 48 months.
Authors
- Elizabeth Sokol (ORCID: https://orcid.org/0000-0002-1787-6901)
- Andrea Klein (ORCID: https://orcid.org/0000-0003-2733-5911)
- Mark Gorman (ORCID: https://orcid.org/0000-0003-3694-8832)
- Ming Lim (ORCID: https://orcid.org/0000-0001-7738-8910)
- Nikita Malani Shukla (ORCID: https://orcid.org/0000-0002-7322-676X)
- Kierstin Hederstedt (ORCID: https://orcid.org/0000-0001-6232-0462)
- Wendy G. Mitchell (ORCID: https://orcid.org/0000-0001-8082-1383)
- Yasmin Khakoo (ORCID: https://orcid.org/0000-0003-1633-6759)
- Kumaran Deiva (ORCID: https://orcid.org/0000-0002-8409-2365)
- Sarah Hopkins (ORCID: https://orcid.org/0000-0003-3328-1622)
- Thomas Rossor (ORCID: https://orcid.org/0000-0001-5472-1813)
- Timothy E. Lotze (ORCID: https://orcid.org/0009-0003-2898-1963)
- Rebecca MacRae (ORCID: https://orcid.org/0000-0001-9653-2973)
- Bo Zhang (ORCID: https://orcid.org/0000-0003-1574-198X)
- Christopher Cortina (ORCID: https://orcid.org/0009-0008-5914-3774)
Institutions
- University of Southern California (US)
- Boston Children's Hospital (US)
- Memorial Sloan Kettering Cancer Center (US)
- Children's Hospital of Philadelphia (US)
- Children's Hospital of Los Angeles (US)
- Harvard University (US)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Cornell University (US)
- University Hospital of Bern (CH)
- Centre de Référence des Maladies Autoinflammatoires et des Amyloses (FR)
- University Children’s Hospital Bern (CH)
- Lurie Children's Hospital (US)
- Evelina London Children's Healthcare (GB)
- Texas Children's Hospital (US)
- Boston Children's Museum (US)
- Bicêtre Hospital (FR)
Publication Details
- Journal
- Neurology Neuroimmunology & Neuroinflammation
- Published
- 2026-07-16
- DOI
- https://doi.org/10.1212/nxi.0000000000200619
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00