Video: Researchers discover rare genetic brain disorder

Credit: Wikimedia Commons

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 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, will investigate whether targeted treatments are possible.

Credit: Murdoch Children's Research Institute
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
Journal information: Brain

Citation: Video: Researchers discover rare genetic brain disorder (2019, January 18) retrieved 3 December 2022 from
This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Explore further

Gene sequencing may help tailor treatments for young kidney transplant recipients


Feedback to editors