Rinsho Shinkeigaku (Clinical Neurology)

The 51st Annual Meeting of the Japanese Society of Neurology

Japan spastic paraplegia research consortium (JASPAC)

Yoshihisa Takiyama, M.D.1), Hiroyuki Ishiura, M.D.2), Haruo Shimazaki, M.D.3), Michito Namekawa, M.D.3), Yuji Takahashi, M.D.2), Jun Goto, M.D.2), Shoji Tsuji, M.D.2) and Masatoyo Nishizawa, M.D.4)

1)Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
2)Department of Neurology, Graduate School of Medicine, University of Tokyo
3)Division of Neurology, Department of Internal Medicine, Jichi Medical University
4)Department of Neurology, Brain Research Institute, Niigata University

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)

(CLINICA NEUROL, 50: 931－934, 2010)
key words: hereditary spastic paraplegia, JASPAC, gene analysis

(Received: 22-May-10)