Posted - December 2011 in Research Highlights
A nationwide clinical and genetic survey of HSPers in Japan has so far registered 321 people from 144 families. This is an important global resource for quantifying the genetic and clinical spectrum of HSP.
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, pathophysiology in various HSP phenotypes.
SOURCE: Rinsho Shinkeigaku. 2010 Nov;50(11):931-4. PMID: 21921516 [PubMed – in process]
Japan spastic paraplegia research consortium (JASPAC).
Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.