biostudies-literatureSoldatos ANational Institute of Neurological Disorders and StrokeUganda Ministry of HealthCenters for Disease Control and PreventionChan Zuckerberg BiohubMentored Clinical Scientist DevelopmentNHGRIIntramural Research Programs of NINDS968-976https://www.ebi.ac.uk/biostudies/studies/S-EPMC10169415biostudies-literatureUnknown146(3)The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors to disease aetiology, and evaluate response to immunotherapy. This cohort study investigated members of a single-family unit from Lamwo District, Uganda. The participants for this study were selected by the Ugandan Ministry of Health as representative for nodding syndrome and with a conducive family structure for genomic analyses. Of the eight family members who participated in the study at the National Institutes of Health (NIH) Clinical Center, three had nodding syndrome. The three affected patients were extensively evaluated with metagenomicBrain : a journal of neurologyGenomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.PMC10169415K08NS096117Aceng JRPusey-Swerdzewski BFauni HDowell SFJohnson TMacnamara EFPalmore TNNath ASejvar JJToro CThurm AMalicdan MCVStratakis CADowning RToliva BOInati SKDeRisi JLChang RWilson MRGahl WABunga SSoldatos AAdams DEvans CBaker EHCantilena CAryek-Kwe JGroden CThomas JDBuckler AGLau CCNutman TBO'Connell EMfalseGenomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors to disease aetiology, and evaluate response to immunotherapy. This cohort study investigated members of a single-family unit from Lamwo District, Uganda. The participants for this study were selected by the Ugandan Ministry of Health as representative for nodding syndrome and with a conducive family structure for genomic analyses. Of the eight family members who participated in the study at the National Institutes of Health (NIH) Clinical Center, three had nodding syndrome. The three affected patients were extensively evaluated with metagenomic2023-01-01T00:00:00Z2023 Mar2025-04-25T22:35:04.43Z2025-04-06T09:04:42.247ZS-EPMC101694153618142410.1093/brain/awac357