Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.

ABSTRACT: Primary brain calcification (primary familial brain calcification in inherited cases) is an often-genetic condition characterized by symmetrical brain calcifications and neuropsychiatric symptoms. The calcifications can also occur without overt clinical symptoms. Identifying laboratory biomarkers in primary brain calcification and their association with imaging, genetic, and clinical data will be crucial for a deeper understanding of primary brain calcification causation and progression and the planning of therapeutic trials. The serum biomarkers for neuronal degeneration (phosphorylated tau, neuron-specific enolase, neurofilament light- and heavy chain) and glial activation (glial fibrillary acidic protein, S100 calcium-binding protein B) were measured in 101 probands (41 controls and 60

SUBMITTER: Schwahn J 

PROVIDER: S-EPMC12574706 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature