Brain Box

Baby B’s parents first realised something wasn’t right when he was just a few months old. His head seemed small and there were problems with his muscles and joints. By five, he still couldn’t walk, talk or see properly, and was prone to seizures. These MRI brain scans, taken at nine months (top row) and five years (bottom) reveal the problem: a condition known as genetic leukoencephalopathy (gLE). Normally the brain is made up of a mixture of grey matter (made of processing nerve cells) and white matter, formed of connecting and supporting cells. Children with this type of gLE have a fault in a gene called VPS11, leading to too much white matter in their brain. Sadly for B and his family there is currently no cure for the condition. But scientists hope that understanding what’s happening at a molecular level will uncover ways to help in the future.

Written by Kat Arney

Kat Arney

Writer

Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

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• Image from work by Jinglan Zhang and Véronik Lachance and colleagues
• Dept of Neurology, The Friedman Brain Institute and the Dept of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
• Image originally published under a Creative Commons Licence (BY 4.0)
• Published in PLOS Genetics, April 2016