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We describe a postmortem case of familial idiopathic basal ganglia calcification (FIBGC) in a 72‐year‐old Japanese man. The patient showed progressive cognitive impairment with a seven‐year clinical course and calcification of the basal ganglia, thalami, and cerebellar dentate nuclei. A novel heterozygous missense variant in SLC20A2 (c.920C>T/p.P307L), a type III sodium‐dependent phosphate transporter...
Idiopathic basal ganglia calcification (IBGC), or Fahr's disease, is a neurological disorder characterized by widespread calcification in the brain. Recently, several causative genes have been identified, but the histopathologic features of the brain lesions and expression of the gene products remain unclear. Here, we report the clinical and autopsy features of a 62‐year‐old Japanese man with familial...
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