第51回日本神経学会総会
＜シンポジウム12―3＞神経疾患の臨床研究を目指したコンソーシアム
Japanese Consortium for Amyotrophic Lateral Sclerosis Research（JaCALS）
熱田 直樹1）, 祖父江 元2）
1）名古屋大学医学部附属病院神経内科〔〒466―8560 名古屋市昭和区鶴舞町65〕
2）名古屋大学大学院医学系研究科神経内科学
To investigate the longitudinal course of Japanese patients with Amyotrophic Lateral Sclerosis (ALS), we constructed a multicenter registration and follow-up system called Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Genomic DNA samples of ALS patients were stored and linked to the clinical information. We designed a telephone survey system using a clinical research coordinator (CRC) to check the score of the ALS Functional Rating Scale-R (ALSFRS-R) and the prognosis every 3 months. In January 2006, we began registering ALS patients, and, at present, 19 neurology facilities are participating in the JaCALS. Currently, 421 Japanese ALS patients are registered. The longitudinal courses and prognoses of 93% of the 284 patients over a year from registration have been recorded in this system. In collaboration with the RIKEN Center for Genomic Medicine, genome-wide association studies (GWAS) for ALS susceptibility genes were conducted using 981 ALS samples from the JaCALS and BioBank Japan. Novel associated genes were identified, and replication studies are underway. JaCALS has established an efficient registration and follow-up system with genomic DNA resources of ALS patients, and will contribute to identify ALS-associated genes and to promote clinical researches.
Full Text of this Article in Japanese PDF (255K)
(臨床神経, 50：928−930, 2010)
key words：筋萎縮性側索硬化症（ALS），自然歴，ゲノム遺伝子，予後因子，電話調査
（受付日：2010年5月22日）
