Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in of the brain. The affected individuals exhibit movement disorders, and progressive deterioration cognitive psychiatric ability. genetic cause disease mutation one several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably sporadically occurs. He...

BACKGROUND Fahr's disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term "Fahr's syndrome" is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical pi...

Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder (1). We herein demonstrate the brain computed tomography (CT) findings of a 31-year-old woman with HDR syndrome caused by a GATA3 heterozygous mutation (2). Her 1-year-old son had renal cystic dysplasia. Brain CT revealed bilateral and symmetrical calcifications in the basal ganglia, ...

Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequenc...