Large HSP database in Japan

Posted - December 2014 in Research Highlights

Valuable resource for clinical trials

The existence of a large national HSP database in Japan may prove to be a valuable resource in establishing a patient registry and carrying out clinical trials to find effective treatments for HSP.

 

Abstract

Japan Spastic Paraplegia Research Consortium (JASPAC), a nationwide clinical and genetic survey of patients with hereditary spastic paraplegia (HSP), was started in 2006 as a project of the Research Committee for Ataxic Diseases of the Ministry of Health, Labor, and Welfare, Japan.

To date (April 4, 2014) 448 indexed patients with HSP have been registered from 46 prefectures in Japan. We are now performing molecular testing of the HSP patients using Sanger sequencing (SPG4, SPG11, 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, and ARSACS), and resequencing microarray (SPG1, 2, 3A, 4, 5, 6, 7, 8, 10, 11, 13, 17, 20, 21, 31, 33, and ABCD1).

In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%).

In 88 patients with autosomal recessive HSP, although SPG11 was the most common form, accounting for 6%, most showed significant genetic heterogeneity.

The results of molecular testing will be applicable to patients in terms of improved positive diagnosis, follow-up, and genetic counseling.

JASPAC will contribute to elucidating the molecular mechanisms underlying HSP, and will facilitate the development of better treatments for HSP.

 

SOURCE: Brain Nerve. 2014 Oct;66(10):1210-7. Doi: 10.11477/mf.1416200012. PMID: 25296875 [PubMed – in process]

Japan Spastic Paraplegia Research Consortium (JASPAC).

[Article in Japanese]

Takiyama Y.

Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.

 

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