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Functional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation
Giulia Sprugnoli1,2, Giampaolo Vatti2, Simone Rossi1,2
1Department of Medicine, Surgery and Neuroscience, Brain Investigation & Neuromodulation Laboratory, University of Siena, Siena, Italy.
Frontiers in Integrative Neuroscience
|June 28, 2018
Summary
This study reveals that "double cortex" syndrome, a rare brain malformation, shows reduced functional connectivity (FC) between hemispheres. Genetic analysis identified potential contributing variants in FAT4 and COL18A1 genes.
Area of Science:
- Neuroscience
- Genetics
- Medical Imaging
Background:
- Laminar heterotopia, including periventricular nodular heterotopia (PNH) and double cortex (DC) syndrome, is a rare gray matter malformation.
- These conditions present atypical cortical development, impacting brain structure and function.
Purpose of the Study:
- To investigate the functional connectivity (FC) and genetic underpinnings of a "double-cortex"-like malformation using functional MRI (fMRI) and genetic analysis.
- To compare FC within the malformation, with normally migrated cortex, and with healthy controls.
Main Methods:
- Functional MRI (fMRI) analysis of a drug-resistant epilepsy patient with a "double-cortex"-like malformation.
- Segmentation of heterotopic gray matter into regions of interest (ROIs) for voxel-wise FC comparison.
- Comprehensive genetic analysis to screen for genes associated with cortical malformations.
Main Results:
- Significant reduction in FC between laminar heterotopias/overlying cortex and the contralateral hemisphere compared to healthy controls.
- Identification of two heterozygous variants of uncertain significance in FAT4 and COL18A1, genes linked to autosomal recessive diseases.
- Demonstration of hemispheric connectivity segregation in both the heterotopic and normally migrated cortex.
Conclusions:
- Altered FC in "double-cortex"-like malformations may impact large-scale brain networks and electrophysiological activity.
- The study suggests potential involvement of unidentified genes and a possible role for rare variants in recessive genes as pathogenic cofactors.
- This research provides novel insights into the functional and genetic landscape of this rare cortical malformation.