Language
English
Publication Date
6-1-2025
Journal
Journal of Neuroradiology
DOI
10.1016/j.neurad.2025.101339
PMID
40204117
PMCID
PMC12178811
PubMedCentral® Posted Date
6-1-2026
PubMedCentral® Full Text Version
Author MSS
Abstract
Background: NAA10-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.
Objective: We 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 methods: Neuroimaging 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.
Results: On 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.
Conclusion: This 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.
Keywords
Humans, Male, Female, Child, Neurodevelopmental Disorders, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Child, Preschool, Neuroimaging, Adolescent, Adult, Syndrome, Magnetic Resonance Imaging, Brain, Young Adult, Intellectual Disability, Amidohydrolases, Ogden Syndrome, NAA15-related neurodevelopmental syndrome, NAA10-related neurodevelopmental syndrome
Published Open-Access
yes
Recommended Citation
Patel, Rahi; Makwana, Rikhil; Christ, Carolina; et al., "Neuroanatomical Features of NAA10 and NAA15-Related Neurodevelopmental Syndromes" (2025). Faculty, Staff and Students Publications. 7510.
https://digitalcommons.library.tmc.edu/baylor_docs/7510
Graphical Abstract