Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

ABSTRACT:

Background

NAA10-related (Ogden Syndrome) and NAA15-related neurodevelopmental syndromes present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. While there is much data on the clinical manifestations of these conditions, there are few radiologic reports describing the neuroanatomical abnormalities present on imaging.

Objective

Our goal was to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess severity, common radiologic anomalies, and changes over time to better understand the pathophysiology of these disease processes.

Materials and methods

Neuroimaging studies from 26 p

SUBMITTER: Patel R 

PROVIDER: S-EPMC11230317 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature