Year: 2026
Type: article
Study design: Observational Study
Abstract: 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.
Institutions: Boston Children's Hospital, Harvard University, Assistance Publique – Hôpitaux de Paris, Bicêtre Hospital, University of Bern, University Hospital of Bern, King's College London, Guy's and St Thomas' NHS Foundation Trust, Evelina London Children's Healthcare, Lurie Children's Hospital, Memorial Sloan Kettering Cancer Center, Cornell University, Weill Cornell Medicine, Baylor College of Medicine, Texas Children's Hospital, University of Southern California, Children's Hospital of Los Angeles, Children's Hospital of Philadelphia
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,450
Funder: National Cancer Institute
Award: Cancer Center Support Grant
OpenAlex ID: W7168968364