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Identification of the disease causing mutaition in a family case of Fahr's disease

Research Project

Project/Area Number 24790872
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Neurology
Research InstitutionYamagata University

Principal Investigator

KOYAMA Shingo  山形大学, 医学(系)研究科(研究院), 助教 (30436208)

Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
KeywordsFahr病 / 特発性大脳基底核石灰化症 / SLC20A2
Research Abstract

In this study, we identified a novel c.516+1G>A mutation in the SLC20A2 gene in a family case of idiopathic basal ganglia calcification (IBGC) presenting with parkinsonism. Exome sequencing of the proband identified the c.516+1G>A mutation in the disease-causing gene, SLC20A2. Calcified lesions on brain CT were observed across three generations in our family. The proband and his mother presented with parkinsonism including resting tremor and rigidity. The proband's son also had brain calcification lesions, although he was clinically asymptomatic. Reverse transcript-PCR analysis and Sanger sequencing confirmed the skipping of exon 4 in the patient carrying c.516+1G>A mutation.

Report

(3 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • Research Products

    (2 results)

All 2014

All Presentation (2 results)

  • [Presentation] パーキンソン症状を契機に診断され新規SLC20A2遺伝子変異を認めた家族性idiopathic basal ganglia calciicationの1家系2014

    • Author(s)
      小山信吾
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡国際センター(福岡市)
    • Year and Date
      2014-05-24
    • Related Report
      2013 Final Research Report
  • [Presentation] パーキンソン症状を契機に診断され新規SLC20A2遺伝変異を認めた家族性idiopathic basal ganglia calcificationの1家系2014

    • Author(s)
      小山信吾
    • Organizer
      第55回日本神経学会学術大会
    • Place of Presentation
      福岡国際センター(福岡市)
    • Related Report
      2013 Annual Research Report

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Published: 2013-05-31   Modified: 2019-07-29  

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