Article
Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1).
Journal of the neurological sciences - 15 May 2018
Hozumi Isao, Kurita Hisaka, Ozawa Kazuhiro, Furuta Nobuyuki, Inden Masatoshi, Sekine Shin-Ichiro, Yamada Megumi, Hayashi Yuichi, Kimura Akio, Inuzuka Takashi, Seishima Mitsuru
Abstract excerpt
INTRODUCTION: Idiopathic basal ganglia calcification (IBGC), also called Fahr's disease or recently primary familial brain calcification (PFBC), is characterized by abnormal deposits of minerals including calcium mainly and phosphate in the brain. Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of IBGC. Recently, Slc20a2-KO mice...
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