Video: Researchers discover rare genetic brain disorder

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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

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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 11 July 2020 from https://medicalxpress.com/news/2019-01-video-rare-genetic-brain-disorder.html
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