Searching a causative gene of corticobasal degeneration with next generation sequencing

2016 Fiscal Year Final Research Report

• Project/Area Number: 15H06601
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Juntendo University
• Principal Investigator: OGAKI Kotaro 順天堂大学, 医学部, 助教 (20459035)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Keywords: 神経内科 / 大脳皮質基底核変性症 / 遺伝子

Outline of Final Research Achievements

Corticobasal degeneration (CBD) and conticobasal syndrome (CBS) are rare neurodegenerative disorders. Furthermore, familial CBS is extremely rare. We found familial CBS in which two siblings have CBS and their father had similar symptom. We hypothesized that one causative gene caused this familial disease. In 2015 and 2016, we examined the detailed familial history, neurological examination, neuroimaging and blood sampling for eight members in the family. We extracted DNA from lymphocyte of those eight members. Exome sequencing (high-throughput DNA sequencing for all of the expressed genes in a genome) was done in two siblings with CBS and two healthy family members. In 2016 and 2017, we analyzed genetic data and reduced the number of candidate genes.

Free Research Field

神経内科