title: [Japan spastic paraplegia research consortium (JASPAC)].
abstract: 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.
authors.affiliation: Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishiura
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Michito
authors.initials: M
authors.lastname: Namekawa
authors.forename: Yuji
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Jun
authors.initials: J
authors.lastname: Goto
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
mesh_terms: D055106:Genome-Wide Association Study; D006801:Humans; D007564:Japan / Q000453:epidemiology; D015337:Multicenter Studies as Topic; D009462:Neurology / Q000458:organization & administration*; D020336:Paraparesis, Spastic / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D057089:Pathology, Molecular; D012106:Research / Q000458:organization & administration*; D012955:Societies, Medical / Q000458:organization & administration*