Neuroradiologic Findings in Patients With S CN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.
Daniel Bamborschke, Zeynep Bendella, Meagan Allen et al.
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In 30 seconds
This systematic review and retrospective multicenter cohort study examined neuroradiologic findings in 354 patients with SCN2A disease. MRI abnormalities were identified in 41% of a novel cohort and 45% of published cases, with supratentorial atrophy (15%) and white matter changes (17%) being the most common findings. The study highlights distinct imaging patterns across phenotypic subgroups.
Key findings
- 41% of the novel cohort exhibited MRI abnormalities, compared to 45% in published cases.
- Supratentorial atrophy was observed in 15% of patients, primarily in severe early-onset cases.
- Cortical malformations, particularly polymicrogyria, were found in 5% of patients.
- Hippocampal alterations were more frequent in the novel cohort (15%) than in published cases (2%).
Why it matters
Understanding the neuroradiologic spectrum of SCN2A disease is crucial for clinicians to provide accurate prognostic information and guide treatment decisions. The distinct imaging patterns can inform early intervention strategies and improve patient management.
What to keep in mind
The study's retrospective design and the heterogeneous nature of the imaging data are significant limitations.