Neil Platt was diagnosed with motor neurone disease (MND), also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease, in February 2008 by Professor Chris Shaw. Sadly, he lost his own personal battle with the disease a year later, but through his family, friends and this documentary he wanted to continue to raise awareness around this devastating illness.
Motor neurone disease has been described as the last truly incurable disease of the modern day. MND is a rapidly progressive and fatal disease. It can affect any adult at any time and attacks the motor neurones that send messages from the brain to the muscles, leaving people unable to walk, talk or feed themselves.
The French neurologist Jean-Martin Charcot first described MND in 1874. The term motor neurone disease describes a group of related diseases, affecting the motor nerves or neurones in the brain and spinal cord which pass messages to the muscles telling them what to do.
The cause of the disease is unknown and there is no known cure. Around 5,000 people in the UK have MND at any one time, with half of people with the disease dying within 14 months of diagnosis. It kills five people every day in the UK.
Ten days after Neil died, Professor Chris Shaw made a very significant breakthrough in MND research by identifying one of the genes that cause it, and more discoveries are being made every day.
Neil Platt was among the small proportion (5-10%) of people with MND who have a family history of the disease, caused by genetic mistakes that can be passed from one generation to the next. In the past year, the MND Association funded researchers have identified a repeated six-letter expanse of genetic code (called a hexanucleotide repeat expansion) in a gene called C9ORF72 that can cause 40% of cases of familial MND. This game-changing discovery means that we now know the genetic cause of approximately 70% of cases of familial MND which includes 12 genetic causes.
In October 2012, reports announced that Scientists at Bath University moved one step further to understanding the role of one of the proteins that causes the neurodegenerative disease. The scientists studied a protein called angiogenin, which is present in the spinal cord and brain that protects neurones from cell death. Mutations in this protein have been found in sufferers of MND and are thought to play a key role in the progression of the condition. This discovery not only advances our understanding of the disease, but may also give rise to new ideas on treatment development.
About Professor Chris Shaw
Christopher Shaw is the scientific consultant on the film. He is a Professor of Neurology and Neurogenetics at the Institute of Psychiatry, King’s College London. He is also an Honorary Consultant Neurologist at King’s College Hospital and Neurogeneticist at Guy’s and St Thomas’ Hospitals. His early training in General Medicine and Neurology was conducted in New Zealand. He came to Cambridge in 1992 on a Wellcome Trust Fellowship to study Neurobiology. In 1995 he moved to the Institute of Psychiatry. His major area of clinical and research interest is in the genetic and molecular basis of motor neurone disease (MND, also known as amyotrophic lateral sclerosis or Lou Gehrig’s disease). He runs a clinic for patients with MND/ALS at King’s College Hospital and for other inherited neurological disorders at Guy’s Hospital.
You can see Chris Shaw in our video that explains the need for donations to the campaign and to MND research.