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Brain structural changes in alternating hemiplegia of childhood using single-case voxel-based morphometry analysis.

Elly Arizono1,2, Noriko Sato1, Yoko Shigemoto1

  • 1Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
|August 21, 2023
PubMed
Summary

Alternating hemiplegia of childhood (AHC) patients show reduced gray and white matter brain volumes compared to controls. Brain volume reductions correlate with motor dysfunction severity in AHC.

Keywords:
ATP1A3MRIalternating hemiplegia of childhoodcerebellumsingle-case voxel-based morphometry

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Area of Science:

  • Neuroscience
  • Medical Imaging
  • Genetics

Background:

  • Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder linked to ATP1A3 gene mutations.
  • Understanding the structural brain changes in AHC is crucial for diagnosis and management.

Purpose of the Study:

  • To compare gray matter (GM) and white matter (WM) brain volumes between AHC patients and healthy controls using voxel-based morphometry (VBM).
  • To investigate the relationship between clinical severity (motor, cognitive, and epilepsy status) and regional brain volume differences in AHC patients.

Main Methods:

  • VBM analysis of 3D T1-weighted MRI scans was performed on 9 AHC patients and 20 age-matched controls.
  • Single-case VBM analysis examined correlations between GM/WM volumes and clinical severity metrics in AHC patients.

Main Results:

  • AHC patients exhibited significant GM reductions in hippocampi and cerebellum, and WM reductions in cerebral hemispheres compared to controls.
  • Reduced cerebellar GM/WM volume correlated with greater motor dysfunction.
  • Insular GM reduction was observed in some patients with cognitive dysfunction, and hippocampal GM reduction in those with status epilepticus.

Conclusions:

  • VBM analysis, including single-case approaches, can reveal associations between regional brain volume changes and clinical symptom severity in AHC.
  • This study highlights specific structural brain alterations in AHC and their correlation with disease severity, even in a small cohort.