ArticleJournal of neuroradiology = Journal de neuroradiologie2025
Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.
Article in Journal of neuroradiology = Journal de neuroradiologie, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed.
- Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome.Molecular and cellular pediatrics · 2026Review
- The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.Pediatric cardiology · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.American journal of medical genetics. Part A · 2025Article
- Exome sequencing in Nigerian children with early-onset epilepsy syndromes.Epilepsia open · 2025Article
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Abstract
backgroundNAA10-related and NAA15-related neurodevelopmental (ND) syndromes present with intellectual disability, hypotonia, cardiac abnormalities, and delayed development. While data exists on the clinical manifestations of these conditions, there are few reports describing the neuroanatomical abnormalities present on imaging.
objectiveWe aim to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess the severity and number of neuroanatomical anomalies and their associated functional impairments to better understand the pathophysiology of these disease processes. MATERIALS AND
methodsNeuroimaging studies were obtained from 26 probands (18 with pathogenic variants in NAA10, 8 with pathogenic variants in NAA15) and evaluated. In depth medical histories were also collected on probands, including genetic testing results and developmental history. The Vineland 3 Adaptive Behavior Scale was also administered to assess functional status of the probands.
resultsOn average, individuals with NAA10-related ND syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15-related ND syndrome had 2.8 (SD = 2.3, p = 0.02). Probands with a greater number of anatomical abnormalities tended to score worse on Vineland assessments. Structure and function were correlated such that individuals with greater defects on, for example, motor regions of their scans, tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with NAA10-related ND syndrome.
conclusionThis analysis of a cohort of probands with NAA10-related ND syndrome and NAA15-related ND syndrome by two neuroradiologists has established a range of subtle abnormalities. We hope these findings guide future research and diagnostic studies for this population.
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