BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 71, Issue 1 (January 2019)

Progress on the Pathophysiology of Idiopathic Basal Ganglia Calcification Isao Hozumi 1 1Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University Keyword: 特発性基底核石灰化症 , idiopathic basal ganglia calcification , IBGC , primary familial brain calcification , PFBC , ファール病 , 無機リン酸 , Fahr's disease , inorganic phosphate pp.59-66
Published Date 2019/1/1
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Idiopathic basal ganglia calcification (IBGC), which is also called Fahr's disease or recently referred to as primary familial brain calcification (PFBC), is an idiopathic and intractable disease characterized by abnormal deposits of minerals including calcium in the basal ganglia and other brain regions such as the thalamus and cerebellum. Mutations in SLC20A2, PDGFRB, PDGFB, XPR1, MYORG have been reported in the past several years. The pathophysiological basis presumed by the genetic studies is the impairment of the transport of inorganic phosphate (Pi) into and out of cells in the brain. We reported high levels of Pi in the cerebrospinal fluid (CSF) of IBGC patients, especially in IBGC patients with SLC20A2 mutations. The flow of Pi between the CSF and interstitial fluid (ISF) in the brain and the drainage flow through the perivascular space in the perivascular drainage pathway can explain the distribution and pathology of mineralization in IBGC. Thus, it is very important to further elucidate the pathophysiology of IBGC and consequently develop pharmacological agents based on the pathophysiology of IBGC in the near future in order to benefit patients with IBGC and their families.

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BRAIN and NERVE-神経研究の進歩
71巻1号 (2019年1月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院