[Molecular mechanism of idiopathic basal ganglia calcification].
Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease, is an inheritable neurodegenerative syndrome characterized by mineral deposits in the basal ganglia and other brain regions. Patients with IBGC are often accompanied with movement disorders, cognitive impairment as well as psychiatric abnormalities. So far, no therapeutic drug has been developed for the treatment of IBGC. Recently, genetic studies have identified several genes associated with IBGC, including SLC20A2, PDGFRB, PDGFB, ISG15 and XPR1. Loss-of-function mutations in these genes have been associated with disturbance in phosphate homeostasis in brain regions, the dysfunction of blood-brain barrier as well as enhanced IFN-α/β immunity. In this review, we summarize the latest research progress in the studies on molecular genetics of IBGC, and discuss the molecular mechanisms underlying the pathophysiology of mutations of different genes.
Cheng
C
Wang
Xuan
X
Xu
Lu-lu
LL
Li
Tao
T
Wang
Min
M
Zhang
Lu
L
Shen
Bei-sha
BS
Tang
Jing-yu
JY
Liu
D001480:Basal Ganglia Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D016207:Cytokines / Q000235:genetics; D006801:Humans; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics*; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000502:physiology; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D011991:Receptors, Virus / Q000235:genetics; D015398:Signal Transduction; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics; D014452:Ubiquitins / Q000235:genetics; D000089842:Xenotropic and Polytropic Retrovirus Receptor
D016207:Cytokines; D043562:Receptors, G-Protein-Coupled; D011991:Receptors, Virus; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III; D014452:Ubiquitins; C000715267:XPR1 protein, human; D000089842:Xenotropic and Polytropic Retrovirus Receptor; C074034:ISG15 protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta