Following more than 5 years of intensive research, a gene responsible for most cases of variant late infantile NCL (Batten Disease), has been localized to chromosome 15. During the project, the team at the Department of Pediatrics, University College London, have also found that a gene responsible for some cases of classical late infantile NCL lies on Chromosome 11. These results will be published in the April issue of the scientific Journal Human Molecular Genetics.

It is hoped that this new genetic information will enable a DNA based prenatal test for the majority of families who already have children affected by these disorders. Until now there has been no such test for either condition in pregnancy, although a histological test is available for classical late infantile NCL. A precise clinical diagnosis with histological information from a skin or rectal biopsy is essential before such a DNA based prenatal test can be performed. Family genetic studies would also be necessary.

The UCL team are grateful to all those families who gave blood samples for this research. Professor Mark Gardiner leads the team, and Drs. Julie Sharp and Ruth Wheeler have been responsible for most of the laboratory work. Dr. Ruth Williams can give further details of results, via local pediatricians and clinicians, to those families who have taken part in this research.

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