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Updated: Aug 6, 2026
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Evaluation of Synapse Density in Hippocampal Rodent Brain Slices
Published on: October 6, 2017
Brain structure abnormalities in neurodevelopmental synaptopathies
Júlia Romagosa-Perez1, Juliana Ribeiro-Constante2, Natalia Alexandra Julià-Palacios3
1Pediatric Computational Imaging Center, Institut de Recerca Sant Joan de Déu, Santa Rosa, 39-57, Esplugues del Llobregat 08950, Spain; Medicina i Recerca Translacional, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Carrer de Casanova, 143, 08036 Barcelona, Spain.
Neuroimage. Clinical
|July 22, 2026
Summary
This study reveals shared and distinct brain structural changes in rare neurogenetic disorders affecting glutamatergic neurotransmission, including SYNGAP1, GRIN, and STXBP1 mutations. Brain volumetry offers insights into these neurodevelopmental encephalopathies.
Area of Science:
- Neuroscience
- Neuroimaging
- Genetics
Background:
- Advanced brain imaging is underutilized in neurodevelopmental encephalopathies.
- Rare neurogenetic disorders impacting glutamatergic neurotransmission present complex challenges.
- Understanding structural brain alterations is crucial for diagnosis and treatment.
Purpose of the Study:
- To assess structural brain alterations in SYNGAP1, GRIN, and STXBP1 mutations.
- To identify shared and disease-specific neuroanatomical patterns.
- To correlate brain volumetric findings with clinical symptoms.
Main Methods:
- Magnetic resonance imaging (MRI) in patients with SYNGAP1 (n=19), GRIN (n=19), and STXBP1 (n=10) mutations.
- Advanced segmentation for regional brain volume extraction.
- Statistical analysis comparing patient volumes to normative templates and correlating with clinical data.
Main Results:
- Shared volumetric differences observed: enlarged basal ganglia, thalamus, ventricles, and some cortical areas; reduced white matter, cerebellum, and limbic structures.
- Ventricular enlargement correlated with intellectual disability, language, and motor dysfunction severity.
- Disease-specific trends noted: STXBP1 showed supplementary motor cortex enlargement and cerebellar deficits; SYNGAP1 and GRINpathies had prominent amygdala volume deficits.
Conclusions:
- Shared and distinct brain alterations exist in SYNGAP1, GRINpathies, and STXBP1 disorders.
- Brain volumetry provides valuable insights beyond conventional radiological assessment.
- This approach aids in detailed characterization of rare neurogenetic disorders.
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