Searching for factors associated with progression and prognosis in patients with sporadic amyotrophic lateral sclerosis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461277
• 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: Atsuta Naoki 名古屋大学, 医学部附属病院, 病院講師 (90547457)
• Co-Investigator(Kenkyū-buntansha): WATANABE Hirohisa 名古屋大学, 脳とこころの研究センター, 特任教授 (10378177) ; ITO Mizuki 名古屋大学, 医学部附属病院, 助教 (50437042) ; HIRAKAWA Akihiro 名古屋大学, 医学部附属病院, 講師 (90609330)
• Co-Investigator(Renkei-kenkyūsha): SOBUE Gen 名古屋大学, 大学院医学系研究科, 特任教授 (20148315) ; IIDA Aritoshi 理化学研究所, 統合生命医科学研究センター, 上級研究員 (10277585)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 筋萎縮性側索硬化症 / 疾患コホート / 予後因子 / 重症度スケール / 一塩基多型

Outline of Final Research Achievements

From analyses of a multicenter prospective amyotrophic lateral sclerosis (ALS) cohort data, we showed that age at onset was a common prognostic factor for both functional decline and survival in ALS patients. We also showed that age of onset had a significant influence on survival time and the progression of bulbar symptoms, but had no influence on upper limb function in sporadic ALS. We classified the patterns of functional decline in sporadic ALS patients and conducted an association study between the pattern and genome-wide single nucleotide polymorphisms (SNPs). We identified the following 4 clusters of longitudinal functional decline in the cases: a rapid decline cluster, an intermediate decline cluster, a sigmoidal decline cluster and a moderate decline cluster. We detected a linkage diseuilibrium (LD) block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN.

Free Research Field

神経内科学　運動ニューロン疾患