Genetics and molecular biology of brain calcification

Hao Deng; Wen Zheng; Joseph Jankovic

doi:10.1016/j.arr.2015.04.004

Genetics and molecular biology of brain calcification

Ageing Res Rev. 2015 Jul:22:20-38. doi: 10.1016/j.arr.2015.04.004. Epub 2015 Apr 20.

Authors

Hao Deng¹, Wen Zheng², Joseph Jankovic³

Affiliations

¹ 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.
² Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, China; Center for Experimental Medicine, Third Xiangya Hospital, Central South University, Changsha, China.
³ Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

PMID: 25906927
DOI: 10.1016/j.arr.2015.04.004

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.

Keywords: Brain calcification; Fahr’s disease; Genetics; Hypoparathyroidism; Molecular biology.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Brain* / abnormalities
Brain* / pathology
Calcinosis* / diagnosis
Calcinosis* / genetics
Congenital Abnormalities / genetics*
Genetic Predisposition to Disease
Heredodegenerative Disorders, Nervous System / genetics*
Humans
Membrane Transport Proteins / genetics
Metabolism, Inborn Errors / genetics*
Monomeric GTP-Binding Proteins / genetics
Mutation
Neurofibrillary Tangles / pathology
Receptors, Virus / genetics
SAM Domain and HD Domain-Containing Protein 1
Sodium-Phosphate Cotransporter Proteins, Type III / genetics
Telomere-Binding Proteins / genetics

Substances

Ctc1 protein, human
FLVCR2 protein, human
Membrane Transport Proteins
Receptors, Virus
SLC20A2 protein, human
Sodium-Phosphate Cotransporter Proteins, Type III
Telomere-Binding Proteins
SAM Domain and HD Domain-Containing Protein 1
SAMHD1 protein, human
Monomeric GTP-Binding Proteins