Association of Cortical Atrophy Patterns With Clinical Phenotypes and Histopathological Findings in Patients With...

Area of Science:

• Neurology
• Neuroimaging
• Pathology

Background:

• Rasmussen syndrome exhibits variable cortical atrophy patterns on MRI.
• Automated MRI analysis aids in understanding disease progression.

Purpose of the Study:

• Identify imaging phenotypes of Rasmussen syndrome.
• Clinically characterize identified phenotypes.
• Validate imaging approach with histopathologic analysis.

Main Methods:

• Retrospective case-control study of Rasmussen syndrome patients and healthy controls.
• Network-based atrophy modeling to map disease epicenters.
• K-means clustering to identify atrophy subtypes.
• Correlation of imaging findings with neuropsychological and neuropathologic data.

Main Results:

• Four distinct atrophy subtypes identified: temporoparietal, centrotemporal, frontal, and bilateral.
• Centrotemporal subtype associated with younger age at onset.
• Temporoparietal and frontal subtypes showed most severe neuropsychological impairment.
• Disease epicenters correlated with cortical thickness, myelin content, cerebral blood flow, blood volume, and oxygen metabolism.
• Histopathologic findings validated imaging-based epicenter mapping.

Conclusions:

• Imaging-based mapping of disease epicenters is validated by histopathologic evidence in Rasmussen syndrome.
• Network-based mapping may guide biopsy site selection and treatment decisions.
• This approach could improve outcome prognoses for Rasmussen syndrome patients.