Investigation of clinical picture and causative gene of NIID

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09312
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Nagoya University
• Principal Investigator: Sone Jun 名古屋大学, 医学系研究科, 特任助教 (40513750)
• Co-Investigator(Kenkyū-buntansha): 祖父江 元 名古屋大学, 医学系研究科, 特任教授 (20148315) ; 中村 亮一 名古屋大学, 医学部附属病院, 医員 (80723030)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 核内封入体 / 白質脳症 / 皮膚生検 / DWI / 認知症 / 末梢神経障害 / 自律神経障害

Outline of Final Research Achievements

We diagnosed NIID cases from skin biopsy findings and head MRI findings, and clinical information and genomic samples were accumulated.
By the end of 2017, over 80 sporadic NIID and 24 cases of familial NIID were accumulated. In addition, at each academic conference in Japan and abroad, we announced the above results and also wrote the review on NIID in domestic journals and enlighten the concept of NIID.
Regarding the search for NIID causative genes, we have pursued whole genome analysis using Pacbio sequencer in addition to linkage analysis, exome and whole genome analysis using the next generation sequencer. We now compares with the sequence data of Pacbio of the normal control sample and examines the data.

Free Research Field

神経内科学