title: Genetics and molecular biology of brain calcification.
abstract: 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.
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, China; Center for Experimental Medicine, Third Xiangya Hospital, Central South University, Changsha, China. Electronic address: hdeng008@yahoo.com.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.affiliation: Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, China; Center for Experimental Medicine, Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
mesh_terms: D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics; D000013:Congenital Abnormalities / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D011991:Receptors, Virus / Q000235:genetics; D000076106:SAM Domain and HD Domain-Containing Protein 1; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics
chemical_list: C544945:Ctc1 protein, human; C553450:FLVCR2 protein, human; D026901:Membrane Transport Proteins; D011991:Receptors, Virus; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III; D034501:Telomere-Binding Proteins; D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins
keywords: Brain calcification; Fahr’s disease; Genetics; Hypoparathyroidism; Molecular biology