第51回日本神経学会総会
＜シンポジウム12―4＞神経疾患の臨床研究を目指したコンソーシアム
本邦の痙性対麻痺に関する全国多施設共同研究体制（JASPAC）
瀧山 嘉久1）, 石浦 浩之2）, 嶋崎 晴雄3）, 滑川 道人3）, 高橋 裕二2）, 後藤 順2）, 辻 省次2）, 西澤 正豊4）
1）山梨大学神経内科〔〒409―3898 山梨県中央市下河東1110〕
2）東京大学神経内科
3）自治医科大学神経内科
4）新潟大学脳研究所神経内科
Japan Spastic Paraplegia Research Consortium (JASPAC), a nationwide clinical and genetic survey of patients with HSP in Japan, was started from 2006 as a project of the Research Committee for Ataxic Diseases of the Ministry of Health, Labor and Welfare, Japan. To date (October 4, 2010), 321 index patients with HSP have been registered from 40 prefectures in Japan. We are now performing molecular testing for the HSP patients using direct sequencing (SPG4, SPG31, and ARSACS), comparative genomic hybridization (CGH) array (SPG1/2/3A/4/5/6/7/8/10/11/13/15/17/20/21/31/33/39/42/ABCD1/alsin/SACS), and resequencing microarray (SPG1/2/3A/4/5/6/7/8/10/11/13/17/20/21/31/33/ABCD1). In 144 Japanese ADHSP families, SPG4 was the most common form, accounting for 47%, followed by SPG31 (4%), SPG3A (3%), SPG8 (1%), and SPG10 (1%). The results of molecular testing will be applicable to patients in terms of improved positive diagnosis, follow-up, and genetic counseling. Since approximately 40% of ADHSP remain unknown, we will perform high-throughput linkage analyses using SNP HiTLink (SNP High Throughput Linkage analysis system) for the identification of loci for disease-associated genes. Meanwhile, preliminary data showed that SPG11 and ARSACS were common in Japanese ARHSP families. JASPAC will contribute to elucidate the spectrum of clinical features and mutations, genotype/phenotype correlations, pathophisiology in various HSP phenotypes.
Full Text of this Article in Japanese PDF (259K)
(臨床神経, 50：931−934, 2010)
key words：遺伝性痙性対麻痺，JASPAC，遺伝子解析
（受付日：2010年5月22日）
