Gene analysis and clinicopathological features of amyotrophic lateral sclerosis in the area where there are many patients

2016 Fiscal Year Final Research Report

• Project/Area Number: 25461274
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Shinshu University
• Principal Investigator: HINENO Akiyo 信州大学, 医学部附属病院, 講師(特定雇用) (20596366)
• Co-Investigator(Renkei-kenkyūsha): YOSHIDA Kunihiro 信州大学, 医学部附属病院, 特任教授 (90242693)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 筋萎縮性側索硬化症 / 神経病理 / 遺伝子

Outline of Final Research Achievements

In this area, some families have amyotrophic lateral sclerosis with gene mutation such as SOD1 L106V, C111Y, and H46R. We also identified a novel duplication in exon 1 of SOD1 gene. Lower urinary tract dysfunction, especially storage symptoms, developed about one year after the onset of weakness, and the dysfunction occurred simultaneously with artificial respirator use in the patients with SOD1 L106 mutation. The serum levels of HSP70 and HSP90 were signicantly higher in ALS patients than in controls. We confirmed that the incidence of ALS, especially older onset patient in this area has been recently increasing.

Free Research Field

神経内科