{"id":"hum0018","version":2,"url":"https://humandbs.dbcls.jp/research/hum0018/v2","datePublished":"2025-07-16","versions":[{"version":1,"datePublished":"2015-02-03"},{"version":2,"datePublished":"2025-07-16"}],"title":{"ja":"神経筋変性疾患の遺伝子解析研究","en":"Genetic analysis in neurodegenerative disorders"},"summary":{"aims":{"ja":"神経筋変性疾患の原因遺伝子または疾患感受性遺伝子および病態の解明","en":"Identify causative genes or susceptible genes in neurodegenerative diseases"},"methods":{"ja":"Illumina HiSeq 2000/2500を使用したWhole exome sequencing、Whole genome sequencing、RNA sequencing","en":"Whole exome sequencing, whole genome sequencing and RNA sequencing analyses using Illumina HiSeq 2000/2500"},"targets":{"ja":"神経筋変性疾患14症例、および対照健常者7例\nシャルコー・マリー・トゥース病（Charcot-Marie-Tooth disease：CMT）69症例\n前頭側頭型認知症（Frontotemporal dementia：FTD）21症例\n家族性筋萎縮性側索硬化症（Familial amyotrophic lateral sclerosis：Familial ALS）119症例\nミオパチー（Myopathy）85症例\n孤発性筋萎縮性側索硬化症（Sporadic amyotrophic lateral sclerosis：Sporadic ALS）489症例\n運動ニューロン病（Motor neuron disease：MND）9症例\n痙性対麻痺（Spastic paraplegia）465症例","en":"14 patients with multiple system atrophy and 7 healthy control subjects\n69 patients with Charcot-Marie-Tooth disease (CMT)\n21 patients with Frontotemporal dementia (FTD)\n121 patients with Familial amyotrophic lateral sclerosis (Familial ALS)\n85 patients with Myopathy\n490 patients with Sporadic amyotrophic lateral sclerosis (Sporadic ALS)\n9 patients with Motor neuron disease (MND)\n465 patients with Spastic paraplegia"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, expression profiling"},"targets":{"ja":"神経筋変性疾患：14症例\n対照：7名\nシャルコー・マリー・トゥース病：69症例\n前頭側頭型認知症：21症例\n家族性筋萎縮性側索硬化症：119症例\nミオパチー： 85症例\n孤発性筋萎縮性側索硬化症：489症例\n運動ニューロン病：9症例\n痙性対麻痺：465症例\n（日本人）","en":"14 MSAs and 7 Controls\n69 CMTs\n21 FTDs\n119 Familial ALSs\n82 Myopathy\n482 Sporadic ALSs\n9 MNDs\n464 Spastic paraplegia\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、WGS、RNA-seq）","en":"NGS\n(Exome, WGS, RNA-seq)"}},"releaseNote":{"ja":"このバージョンでは、シャルコー・マリー・トゥース病69症例、前頭側頭型認知症21症例、家族性筋萎縮性側索硬化症119症例、ミオパチー85症例、孤発性筋萎縮性側索硬化症489症例、運動ニューロン病9症例、痙性対麻痺465症例の末梢血および脳組織検体から抽出したDNA/RNAを用いたWGS、Exome、RNA-seq解析の結果をFastqファイルにて提供する。","en":"gDNA/RNA extracted from peripheral blood cells or brain tissues of patients with 69 Charcot-Marie-Tooth disease (CMT), 21 Frontotemporal dementia (FTD), 121 Familial amyotrophic lateral sclerosis (Familial ALS), 85 Myopathy, 490 Sporadic amyotrophic lateral sclerosis (Sporadic ALS), 9 Motor neuron disease (MND) and 465 Spastic paraplegia were used for whole exome sequencing, whole genome sequencing and RNA sequencing analyses (fastq format files)."},"dataProviders":[{"name":{"ja":"辻 省次","en":"Shoji Tsuji"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 神経内科学","en":"Department of Neurology, Graduate School of Medicine, The University of Tokyo"}}}],"researchProjects":[],"grants":[{"title":{"ja":"全ゲノム解析に基づく成人発症型神経難病の病因・病態機序の解明","en":"Elucidation of the Etiology and Pathogenesis of Adult-Onset Neurodegenerative Diseases Based on Whole Genome Analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0109491"]},{"title":{"ja":"オミックス解析に基づく希少難治性神経疾患の病態解明","en":"Elucidation of the Pathogenesis of Rare and Intractable Neurological Diseases Based on Omics Analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17ek0109279"]},{"title":{"ja":"希少・難病分野の臨床ゲノム情報統合データベース整備","en":"Development of Clinical Genomic Information Integrated Database for Rare and Intractable Diseases"},"agency":{"ja":"日本医療研究開発機構（AMED） 臨床ゲノム情報統合データベース整備事業","en":"Program for an Integrated Database of Clinical and Genomic Information, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16kk0205001"]},{"title":{"ja":"神経疾患の集中的な遺伝子解析及び原因究明に関する研究","en":"Comprehensive Genetic Analysis Study for Neurological Diseases of Unknown Cause"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP14ek0109065"]},{"title":{"ja":"ゲノム科学の総合的推進に向けた大規模ゲノム情報生産・高度情報解析支援","en":"Genome Science"},"agency":{"ja":"文部科学省科学研究費新学術領域研究（研究領域提案型）","en":"Ministry of Education, Culture, Sports, Science and Technology Japan (MEXT) KAKENHI"},"grantIds":null}],"relatedPublications":[{"title":"Multiple-System Atrophy Research Collaboration. 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Paraplegia","doi":"https://doi.org/10.2169/internalmedicine.3661-19","datasets":["JGAD000611"]},{"title":"UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes","doi":"https://doi.org/10.1038/s10038-019-0670-9","datasets":["JGAD000611"]},{"title":"Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction","doi":"https://doi.org/10.2169/internalmedicine.2765-19","datasets":["JGAD000611"]},{"title":"The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case","doi":"https://doi.org/10.1016/j.ensci.2018.11.026","datasets":["JGAD000611"]},{"title":"A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy","doi":"https://doi.org/10.1038/s10038-018-0538-4","datasets":["JGAD000611"]},{"title":"PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic 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