Details

Autor(en) / Beteiligte

• Hozumi, Isao
• Kurita, Hisaka
• Ozawa, Kazuhiro
• Furuta, Nobuyuki
• Inden, Masatoshi
• Sekine, Shin-ichiro
• Yamada, Megumi
• Hayashi, Yuichi
• Kimura, Akio
• Inuzuka, Takashi
• Seishima, Mitsuru

Titel

Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1)

Ist Teil von

• Journal of the neurological sciences, 2018-05, Vol.388, p.150-154

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2018

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 have been showed to have elevated levels of inorganic phosphorus (Pi) in cerebrospinal fluid (CSF); however, CSF Pi levels in patients with IBGC have not been fully examined. We investigated the cases of 29 patients with IBGC including six patients with SLC20A2 mutation and three patients with PDGFB mutation, and 13 controls. The levels of sodium (Na), potassium (K), chloride (Cl), calcium (Ca), and Pi in sera and CSF were determined by potentiometry and colorimetry. Moreover, clinical manifestations were investigated in the IBGC patients with high Pi levels in CSF. The study revealed that the average level of Pi in the CSF of the total group of patients with IBGC is significantly higher than that of the control group, and the levels of Pi in CSF of the IBGC patients with SLC20A2 mutations are significantly higher than those of the IBGC patients with PDGFB mutations, the other IBGC patients and controls. Results of this study suggest that the levels of CSF Pi will be a good biomarker for IBGC1. •CSF Pi levels in patients with IBGC are significantly higher than those of controls.•Those in patients with IBGC1 are significantly higher than those of other IBGCs.•The concentration of Pi in CSF can be measured in general hospitals.•The level of CSF Pi will be a good biomarker and indicator for IBGC, especially IBGC1.