講演情報
[S4-2]脊髄小脳変性症における大規模エクソーム・全ゲノム配列解析の展望と分子病態
○髙橋 祐二1, 水澤 英洋1, Japan Consortium of Ataxias (J-CAT)2 (1.国立精神・神経医療研究センター 病院 脳神経内科, 2.J-CAT (Japan Consortium of Ataxias))
Spinocerebellar degeneration (SCD) is a group of diseases presenting with ataxia as a cardinal clinical feature, consisting of hereditary SCD (hSCD) and sporadic SCD (sSCD). In Japan, the majority of hSCD are autosomal-dominant, the remaining include autosomal-recessive or X-linked. Hereditary SCD is genetically highly heterogenous, with more than 70 pathogenic genes identified so far. Major disease types of hSCD in Japan are triplet repeat expansion diseases and SCA31, which comprises of approximately 70% of hSCD. The remaining are subgroup of rare ataxias with various types of mutations. In addition, more than 500 hereditary diseases present with ataxia as a partial phenotype. Furthermore, a portion of sSCD patients are accounted for by pathogenic genes of hSCD. Therefore, molecular epidemiology of ataxia is highly complex, and accurate molecular diagnosis of SCD requires to conduct whole exome/genome sequencing (WES/WGS) as a next step after screening of major disease types.
Japan Consortium of Ataxias (J-CAT) launched in 2016 as a web-based registry for patients with ataxias. J-CAT aims to conduct accurate molecular diagnosis, establish disease type-specific natural history, discover novel causes and provide basis for clinical trials. In July 2022, 2292 patients have been registered, 1878 patients have been subjected to initial genetic screening for major hSCD, and 958 mutation-negative patients to WES/WGS. In this symposium, we would like to present the most updated molecular epidemiology of SCD based on J-CAT study and provide perspectives of SCD in WES/WGS era.
Japan Consortium of Ataxias (J-CAT) launched in 2016 as a web-based registry for patients with ataxias. J-CAT aims to conduct accurate molecular diagnosis, establish disease type-specific natural history, discover novel causes and provide basis for clinical trials. In July 2022, 2292 patients have been registered, 1878 patients have been subjected to initial genetic screening for major hSCD, and 958 mutation-negative patients to WES/WGS. In this symposium, we would like to present the most updated molecular epidemiology of SCD based on J-CAT study and provide perspectives of SCD in WES/WGS era.