Analysis of genetic back ground and pathomechanism of spinocerebellar degeneration

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09344
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Yokohama City University
• Principal Investigator: DOI Hiroshi 横浜市立大学, 医学部, 准教授 (10326035)
• Co-Investigator(Kenkyū-buntansha): 田中 章景 横浜市立大学, 医学研究科, 教授 (30378012) ; 田中 健一 横浜市立大学, 医学部, 助教 (50722881) ; 國井 美紗子 横浜市立大学, 附属病院, 助教 (80725200)
• Co-Investigator(Renkei-kenkyūsha): MATSUMOTO Naomichi 横浜市立大学, 医学研究科, 教授 (80325638) ; ISHIKAWA Kinya 東京医科歯科大学, 医学部附属病院, 教授 (30313240)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 脊髄小脳変性症 / exome

Outline of Final Research Achievements

In this study, we aimed to identify novel genes responsible for spinocerebellar degeneration (SCD), through the exome analysis of familial or sporadic cases with SCD, who did not have known SCD-related mutations,
As results of exome analysis for an autosomal dominant SCD family, we identified a missense mutation of CACNA1G, encoding voltage gated calcium channel. However, during our study, the mutation was reported as the novel cause of SCD by other groups. We are preparing a paper focused on the pathology of the patients.
As the results of exome analysis for recessive or sporadic SCD cases, we identified four patients from three families of SCD with ERCC4 mutation. We reported ERCC4 mutations as the rare cause of SCD.

Free Research Field

神経内科学