Article Text

Download PDFPDF
Rapid diagnostic test for the major mutation underlying Batten disease.
  1. I Järvelä,
  2. H M Mitchison,
  3. P B Munroe,
  4. A M O'Rawe,
  5. S E Mole,
  6. A C Syvänen
  1. National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.


    Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of affected chromosomes in Batten disease worldwide. In Finland, 90% of Batten chromosomes carry the major deletion owing to the enrichment of the CLN3 gene in the isolated Finnish population.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.