At last there is heartening news published in JAMA Neurology on Monday 22 January 2024 regarding the early diagnosis of this incurable disease Alzheimer’s. The research was led by Nicholas Ashton, PhD, a professor of neurochemistry at The University of Gothenburg in Sweden. The study found that the blood test was up to 96% accurate in identifying elevated levels of beta-amyloid (another hallmark of Alzheimer’s) and up to 97% accurate in identifying tau.
“This project – which is thanks to £5m in funding from players of People’s Postcode Lottery – will gather the information needed to introduce a blood test for dementia into UK healthcare systems. This blood test would be a crucial step in speeding up how quickly and how early we are able to diagnose dementia”
Dr Richard Oakley, Associate Director of Research and Innovation at Alzheimer’s Society
The current protocol for diagnosing Alzheimer’s is a PET Scan and lumbar puncture to detect signs of progression of the disease. Whilst both procedures are not life threatening they can be slightly invasive, take time and come at a cost in man power, machinery and monetary terms to the NHS.
Since Ashton’s study showed that the protein phosphorylated tau (p-tau2) is clearly accurate this could mean there will soon be a key biomarker blood test for early Alzheimer’s diagnosis. Offering an affordable and hopefully easier way to diagnose the disease.
This physical illness damages a person’s brain. Through time the Alzheimer’s disease causes dementia. As the disease progresses the person affected will rely on more support until one day becoming Almost totally dependent on others.
“This is an excellent study and brings us very close to a blood test for Alzheimer’s disease that can be used in daily practice.”
Prof Bart De Strooper, Professor of Alzheimer’s Disease research at UCL
For some people on receiving their diagnosis of motor neurons disease (MND), they are already showing symptoms of a rare condition that will eventually end their life. With a chance of 1 in 300 in getting MND and affects around 5000 adults in the UK at any one time. This life limiting condition with progressive symptoms has no cure. Receiving a diagnosis of motor neurones disease – devastatingly incurable. Those words echo in the consultation room, life as once was for many so quickly changes. Many people with MND have complex needs, varying depending on the person. The condition reduces life expectancy with only 10% of people with MND living 10 years or more. After receiving a diagnosis life expectancy of MND is one to five years. Unfortunately, one third of people diagnosed with the condition only live for a year and more than half die within 2 years of being told they have motor neurones disease. Getting a diagnosis and living with motor neurones disease – devastatingly incurable.
MND is the name given to a group of illnesses which affect nerves called motor neurones in the brain and spinal cord. They help tell muscles what to do.
If a person has MND, their movement is affected.
Signs and Symptoms
Spontaneous twitching
Fatigue
Muscle cramps
Speech and swallowing difficulties
Weight loss
Shortness of breath
Living with this debilitating condition weakens the muscles and eventually paralysis. Scientists, neurologists are doing everything in their power to develop clinical trials to research the disease. Hoping to make life easier for people with MND and the ultimate aim to find a cure.
In June 2023 the UK Government announced to continue funding for research for motor neurone disease, pledging £50 million to be used throughout the UK.
An international clinical trial led by professor Dame Pamela J Shaw has been shown to slow down progression of a type of motor neurone disease.
This could be a turning point for patient care
Scientists carrying out research at University College London have shown hundreds of proteins and molecules are found in the wrong place in nerve cells affected by MND.
Living with MND is a real game changer. Research into this devastating disease is needed to find the cure that is desperately needed. The hard work that has already gone into research could not be done without the dedication, awareness and money from all who have done so so far. Although there is no cure focussing on helping manage a better daily life for those affected is a goal. From research scientists are gaining an understanding has improved why MND surfaces in neurones and brain tissues.
Hopeful new treatments
University College London – discovered a biomarker; diagnostic test for ALS in early stage clinical trials
UK DRI Edinburgh – Dr Bhuvaneish Selvaraj and Professor Siddharthan Chandran discovered discovered that dysfunctional axons that connect nerve cells to muscles have a role in MND. They were able to show how they could restore function to the axon by boosting a cell’s mitochondrial or natural energy supply. The team hopes these findings will pave the way for new therapies that boost mitochondrial function.
Raising awareness
The work of the scientists is groundbreaking and a must. Awareness is the key to many factors. It helps those affected with the condition in knowing they have support as well as if there is literature out there that people can access, those affected feel they perhaps do not need to repeat the chat over and over again. Stephen Hawking the scientist was diagnosed with MND; he lived for an amazing 55 years with the common type amyotrophic lateral sclerosis (ALS). Fellow Scot, Scottish rugby union player, sadly passed away now, was diagnosed with MND; set up charity My Name’5 Doddie Foundation Diagnosed with MND Rob Burrows, former England rugby league player who does so much still to raise awareness. There are so many people affected with MND that raise awareness; whether, you are running a marathon, holding a cake sale, walking the dog, raffling off a bottle of whisky, or a sponsored silence. It all contributes.
EJY Medical Writing 