Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.

ABSTRACT:

Objective

Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting that calcium deposition may not be limited to the brain, but it is unknown whether this is a hallmark of all PFBC genetic and clinical subtypes. This work aims at assessing anatomical and subcellular localization of calcium-phosphate deposits in skin biopsies from PFBC patients to ascertain the accuracy of histological calcium staining in differentiating PFBC from healthy controls (HC) and Parkinson's Disease (PD).

Methods

Histopatholo

SUBMITTER: Emmi A 

PROVIDER: S-EPMC12040503 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature