Video: Researchers discover rare genetic brain disorder
An international team of researchers, led by MCRI, have identified a rare genetic brain disorder that causes severe neurological damage in children after a mild episode of fever or illness.
The children died soon after. The research has been published in the January edition of the journal, Brain. Only six cases have been found worldwide. Whole-exome or whole-genome sequencing identified recessive NAXD variants in each case. Lead researcher Nicole Van Bergen said that given the underlying genetic basis of the disorder is now understood, future research will investigate whether targeted treatments are possible.
More information: Nicole J Van Bergen et al. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses, Brain (2018). DOI: 10.1093/brain/awy310
