2013 Fiscal Year Final Research Report

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 Type	Multi-year Fund
Research Field	Neurology
Research Institution	Yamagata 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
Keywords	Fahr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.