| Project/Area Number |
24790872
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurology
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| Research Institution | Yamagata University |
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Principal Investigator |
KOYAMA Shingo 山形大学, 医学(系)研究科(研究院), 助教 (30436208)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| 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)
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| Keywords | Fahr病 / 特発性大脳基底核石灰化症 / SLC20A2 |
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| 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.
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