Brain Calcifications: Genetic, Molecular, and Clinical Aspects.

Abstract

Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium-phosphate metabolism derangement, autoimmune disorders and infections, among others). A set of causative genes associated with primary familial brain calcification (PFBC) has now been identified, and include genes such as SLC20A2, PDGFB, PDGFRB, XPR1, MYORG, and JAM2. However, many more genes are known to be linked with complex syndromes characterized by brain calcifications and additional neurologic and systemic manifestations. Of note, many of these genes encode for proteins involved in cerebrovascular and blood-brain barrier functions, which both represent key anatomical structures related to these pathological phenomena. As a growing number of genes associated with brain calcifications is identified, pathways involved in these conditions are beginning to be understood. Our comprehensive review of the genetic, molecular, and clinical aspects of brain calcifications offers a framework for clinicians and researchers in the field.

• Authors: Edoardo Monfrini, Federica Arienti, Paola Rinchetti, Francesco Lotti, Giulietta M Riboldi
• Journal: International journal of molecular sciences (Int J Mol Sci) Vol. 24 Issue 10 (May 19 2023) ISSN: 1422-0067 [Electronic] Switzerland
• PMID: 37240341 (Publication Type: Journal Article, Review)

Chemical References

• Xenotropic and Polytropic Retrovirus Receptor
• Calcium
• SLC20A2 protein, human
• Sodium-Phosphate Cotransporter Proteins, Type III

Topics

• Humans
• Brain Diseases (metabolism)
• Xenotropic and Polytropic Retrovirus Receptor
• Calcium (metabolism)
• Brain (metabolism)
• Calcinosis (genetics, metabolism)
• Molecular Biology
• Mutation
• Sodium-Phosphate Cotransporter Proteins, Type III (genetics)