A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für Molekulare Medizin (MDC), together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children. ClC-6 is one of nine members of the CLCN gene family of chloride channels and chloride/proton exchangers and, apart from ClC-3, was the only one that could not yet be associated with any human disease. The results have just been published in the American Journal of Human Genetics.