Neurodegenerative diseases, where structures in the brain break down, are devastating for the people affected and their loved ones. These include Parkinson’s, Alzheimer’s and Huntington’s diseases in adults, but there are also others affecting very young children. Babies born with an inherited fault in a gene called AMPD2 have difficulties with feeding and movement after birth, which get progressively worse. Sadly, they usually die by the age of ten and there is no treatment. The faulty gene causes problems with their brainstem – a key area that links movement and sensing signals between the brain and the body. The difference is clear in the brain scan on the right where a patient’s shrunken brainstem is highlighted in red, compared with an unaffected child on the left. The good news is that researchers are working on drugs that could over-ride the loss of AMPD2 and provide hope for children in the future.
Written by Kat Arney
BPoD stands for Biomedical Picture of the Day. Managed by the MRC London Institute of Medical Sciences the website aims to engage everyone, young and old, in the wonders of biomedicine. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.