The C9ORF72 gene provides instructions for making a protein that is abundant in specialised neurons in the brain and spinal cord that control movement (motor neurons). The C9ORF72 genetic mutation was discovered in 2011 and has since been found to account for about 40% of familial MND cases. It is also frontotemporal dementia (FTD) in around 15% of people with C9ORF72 MND.
The MND Association’s vision is a world free from MND. Realising this vision means investing more in research, further developing partnerships with the research community, funding bodies and industry, while ensuring that advances in understanding and treating MND are communicated as quickly and effectively as possible.