Genetics and molecular biology of brain calcification

• A number of genetic abnormalities play pathogenic roles in brain calcification.
• We provide a comprehensive review of genes involved in brain calcification.
• These include gene features, mutations, protein functions, and possible mechanisms.
• The findings contribute to understand pathogenic mechanisms of brain calcification.

Brain calcification is a common neuroimaging finding in patients with neurological, metabolic, or developmental disorders, mitochondrial diseases, infectious diseases, traumatic or toxic history, as well as in otherwise normal older people. Patients with brain calcification may exhibit movement disorders, seizures, cognitive impairment, and a variety of other neurologic and psychiatric symptoms. Brain calcification may also present as a single, isolated neuroimaging finding. When no specific cause is evident, a genetic etiology should be considered. The aim of the review is to highlight clinical disorders associated with brain calcification and provide summary of current knowledge of diagnosis, genetics, and pathogenesis of brain calcification.