Primary Brain Calcification (PBC) is a rare neurodegenerative disorder defined by bilateral calcifications predominantly within the basal ganglia, which may also extend to other cerebral and cerebellar regions. Clinically, PBC manifests with striking heterogeneity, including movement disorders (Parkinsonism, ataxia, dystonia, chorea, and episodic dyskinesia), as well as psychiatric (psychosis, anxiety, depression), cognitive, and other neurological symptoms (such as headache and vertigo).

The project stems from a cohort of 50 genetically confirmed PBC patients and 67 healthy volunteers, age- and sex- matched, recruited at the University Hospital of Padua, who underwent cognitive and motor evaluation with validated scales. Controls had no neurological or psychiatric history. All participants previously completed a multi-modal MRI protocol: T1-weighted, rs-fMRI, multi-shell diffusion MRI, ASL, QSM. Additional PBC patients will be recruited and undergo the same MRI and clinical protocol.

Study – Voxel-wise characterization of susceptibility alterations in PBC 

Starting from the susceptibility maps already obtained using conventional QSM, the primary aim will be to perform a voxel-wise analysis to identify brain regions showing significant susceptibility alterations in patients with PBC compared with healthy controls. The analysis will focus on identifying a consistent spatial pattern of susceptibility abnormalities associated with the disease, extending the previous QSM analysis beyond the characterization of calcified regions. If compatible with the project timeline, a further aim will be to re-analyze the QSM data using χ-separation, to disentangle paramagnetic and diamagnetic susceptibility contributions and investigate whether this more advanced susceptibility modeling provides additional information on tissue alterations associated with PBC.