White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Primary brain calcification (PBC) is a genetic disorder causing movement, cognitive, and psychiatric issues.
• Computed tomography (CT) shows calcification but poorly correlates with PBC symptoms; MRI's role is unclear.

Purpose of the Study:

• To investigate white matter (WM) changes in PBC using MRI.
• To identify clinical correlations of these WM alterations.

Main Methods:

• 50 PBC patients and 50 controls underwent 3T brain MRI, CT scans, genetic analysis, and clinical evaluations.
• Two patterns of supratentorial WM changes (leukodystrophic band-like, scattered vascular-like) and cerebellar WM alterations were analyzed.
• Statistical tests compared groups and identified correlations.

Main Results:

• WM abnormalities were found in 41/50 patients and 32/50 controls.
• A band-like leukopathy pattern was observed in 21/25 patients, often severe and associated with specific gene mutations (MYORG, PDGFB/PDGFRB).
• WM changes correlated significantly with cognitive impairment, parkinsonism, psychiatric symptoms, and cerebellar dysfunction.

Conclusions:

• WM alterations are frequent in PBC, resembling leukodystrophy.
• These changes may serve as imaging biomarkers for cognitive, motor, and cerebellar deficits in PBC.