Professional football and MND – looking at the evidence

Last year professional football players, Len Johnrose and Stephen Darby, announced they’d been diagnosed with motor neurone disease (MND). This follows previous announcements from other prominent footballers in this country and across the world in recent years.

Is it the case that professional football players are more prone to developing MND than the general population? Or is this just the impression created by the high-profile nature of these professionals and the corresponding media coverage these cases bring? What does the science suggest?

Here we look at some of the studies that investigate the incidence (rate of newly diagnosed cases) of MND in professional football players and take a closer look at the suggested causes.Read More »

GLT8D1: new gene identifies novel disease mechanism

MND Association-supported clinical fellow Dr Johnathan Cooper-Knock, and a PhD student Tobias Moll, report mutations in a new MND gene which has uncovered a previously unknown disease mechanism. The new MND causing gene holds instructions for a class of proteins, called glycosyltransferase (GLT8D1), which has not previously been associated with neurodegeneration.

During the experiments, published in the journal Cell Reports, the research team read the genetic code from two related patients with an unknown familial (inherited) form of MND and found a change in the gene that makes an enzyme called GLT8D1. They went on to examine a larger sample of 103 people with inherited MND and found that five of these also had this gene abnormality, indicating that this change causes MND. Because the enzyme and its mechanism have never previously been associated with MND, this study has uncovered a new genetic and biological cause of the disease.Read More »

Cognition and FTD: Highlights from Glasgow

Written by Rachel Boothman and Kaye Stevens

This blog is part of the ‘Highlights from Glasgow’ collection of articles, where you can read about the content of some of the talks and posters presented at the 29th International Symposium on ALS/MND.

Exploration into cognition and frontotemporal dementia with MND/ALS continues to attract attention. At the Symposium in Glasgow 2018, we heard of several studies adding to the growing knowledge bank in this field.

A history of other mental health conditions or psychiatric disorders within the family, or for the individual, indicates a correlation with MND/FTD. There seems to be a link between this increased history and a risk of apathy. Early screening is recommended where these histories exist. This can help prepare families and enable early discussions with the person diagnosed with MND, so they can make decisions that may be important to them in the future (C41) C McHutchison.

We are all subject to apathy at times, where we lack motivation to accomplish our goals. However, where cognitive change is involved this can be more marked. Using a five minute questionnaire based on the Dimensional Apathy Scale (DAS), with patients and their care givers, research has found that up to 50% of people with MND/ALS experience apathy throughout the progression of the disease (C53) R Radakovic. Initiation apathy is most typical which makes it hard to accept new things, such as support from an external care worker. This can impact on burden for care givers and quality of life for both patient and care giver. External stimulation can help, so finding out what motivates the person enables activity and therapy to be customised to individual need. This is consistent with sessions at the Allied Professionals Forum which highlighted the use of music therapy and art therapy (Alisa Apreleva, Vivianna Faierman). Also, volunteers working with people who have cognitive change to stimulate interest (Marjolein Cleaver).

With cognitive change there is a greater burden on care givers than with physical demands of care support alone. Early screening and recognition of signs may help to prepare and improve the support given to carers, for example, metabolic changes and overeating indicate the potential for cognitive change. Also, making unexpected decisions about finance, wills or end of life planning that conflict greatly with previous views. Those with the gene C9orf72 may be more predisposed towards frontotemporal dementia and the MND/FTD combination is more likely to have a genetic cause (C64) J Hodges.

People with cognitive change are more likely to drop out of studies and trials. When looking at why this attrition occurs, factors common to cognitive or behavioural change became apparent, such as advancing disease stage, age of onset, fewer years of education and the presence of the genetic mutation C9orf72 (C65) C Crockford. There was a recommendation that cognitive assessment should take place during diagnosis, be monitored throughout the disease course and featured as standard in any further work on defining the stages of MND.

Typically, there isn’t a great deal of emphasis on memory decline in MND. However, a study has shown that clinicians should pay attention to memory function in older patients with cognitive impairment where episodic memory deficits may be a notable feature (C66) J Machts. Those intact at the start are unlikely to show deficits, whereas those already impaired at the start are more likely to develop deficits in, as yet unaffected areas.

If there is a past family or personal history of mental disorder or alcohol abuse, men with MND/FTD are more likely to develop psychosis. This psychosis should possibly be considered as a distinct behavioural subtype, which appears to be made up predominantly of males with the genetic mutation C9orf72 and FTD. Surprisingly, survival in this subtype seems to be prolonged. There needs to be prompt referral to psychiatric services and this form can be very difficult for carers to manage (C67) R Ahmed.

All presentations in this section indicate the need for early screening to prepare families, relieve care giver burden through better support and enable opportunities for decision making before impairment progresses.


Find out more about the topics discussed in Glasgow on our Periodic table of Symposium at www.mndassociation.org/symplive.

Psychological and emotional wellbeing: Highlights from Glasgow

This blog is part of the ‘Highlights from Glasgow’ collection of articles, where you can read about the content of some of the talks and posters presented at the 29th International Symposium on ALS/MND.

Written by Kaye Stevens and Rachel Boothman

At the 2018 International Symposium on MND in Glasgow, it was positive to see an increase in the number of studies about the psychological and emotional impact of MND/ALS. Read about our highlights below.

From the expected to the unexpected, such as studies which considered the effect of gut health on brain and mood.  (C2) J Cryan – As stress and other factors such as medications can affect gut bacteria, there is a need to maintain a healthy microbiome. This led to a recommendation for sharing refined human poo. Coming your way soon could be ‘Crapsules’ and supplements such as ‘Poopulate’.

(C40) Jane Parkin Kullmann – In other work on stress, researchers in Australia found that stress is not necessarily a risk factor in the development of MND/ALS, indeed it appears that people with the disease may actually be more resilient. Further study is ongoing to determine whether this might indicate a genetic difference.Read More »

Fathoming MND

This article was written by our Senior Clinical Fellow Prof Martin Turner, a Consultant Neurologist at John Radcliffe Hospital, Oxford.

“Will it affect my children?” This is one of the questions most commonly asked by people diagnosed with MND. The 20th century answer was a simple “no”, or at least “very unlikely”. With recent scientific advances, however, doctors must give a more complicated answer. At the same time, these advances are cause of excitement about the greater understanding of MND and new hope for treatments for all cases.Read More »

Work Experience with the Research Development team

Kiera portrait.JPGMy name is Kiera Belson and I have just completed three days of work experience at the Motor Neurone Disease (MND) Association for an award called the Youth STEMM Award. This consists of doing different activities and experiences linked to the different STEMM sectors: Science, Technology, Engineering, Maths and Medicine. The work I have done at the MND Association has been linked to the Science and Medicine sectors.

During the time I spent here, I have learnt things about MND as well as researching a technique called induced Pluripotent Stem Cell (iPSC) technology (see below), which has been my main task over the three days. I have also learnt about the Research Development team and what they do at the Association, including management of the ‘UK MND Collections’, a resource of biological samples from people with MND, and the different categories within this: the DNA bank, the cell lines collection and the epidemiology collection.Read More »

Standing on the shoulders of… Dorothy Hodgkin

On the way to work last Wednesday, a story on BBC Radio 4 – ‘Today programme’ suddenly grabbed my attention: “February will mark the 100th anniversary of women having the right to vote!”

Curiosity sparked, I turned up the radio: “BBC Radio 4 are holding an online vote for the most influential British women of the past century. Each day in the run up to the anniversary we’ll be shortlisting and celebrating a candidate for the award”.

Last Wednesday’s nominee was Dorothy Hodgkin, the only British woman to ever win a Nobel Prize in the sciences. Dorothy won her award in 1964 for developing a technique that enables the complex structure of proteins to be deciphered – this is known as protein crystallography. Dorothy used this technique to work out the structure of insulin, vitamin B12 and penicillin.

Funnily enough, I had recently been discussing this technique with my colleague Jessica. I told her the news story when I got to work and we decided we’d share with you how, thanks to Dorothy’s brilliant work, protein crystallography is currently helping researchers funded by the MND Association to find out more about MND.Read More »

Catch up on Symposium…focus on causes and treatments

Following on from our previous catch-up blog on clinical management talks presented at the Symposium, here is a continuation that looks at talks focusing on treatment therapies and causes of MND.

RNA Binding & Transport

RNA is the lesser-known ‘cousin’ of DNA – it contains copies of genetic instructions sent out from the nucleus – the ‘control hub’ of every cell. This RNA is carried out of the nucleus by lots of different proteins, including the RNA-binding proteins TDP-43 and FUS, which act as ‘couriers’ dropping off their RNA at the right part of the cell and then returning to the nucleus for the next package.

These binding proteins both play an important role in motor neurone health. In motor neurones affected by MND, the TDP-43 and FUS seem unable to make their way back to the nucleus so they form clumps in other parts of the neurone. How and why this happens is not really understood and several presentations on the first day of the Symposium provided insight into what might be going wrong.  Dr Brian Dickie, Director of Research Development at the MND Association, summarises these presentations in his blog Libraries, Doormen and Harry Potter. You can also hear Brian talk about RNA proteins on the Symposium website.Read More »

Catch up on Symposium…focus on ‘clinical management’

From abstracts to posters, pushpins to ribbons, it takes a whole year to get to this day – no, not Christmas, but the 28th International Symposium on ALS/MND. In this and the following ‘catch-up’ blog we will summarise what went on at the Symposium and where you can find out more information. To begin with, you can read about what goes into organising the biggest meeting of its kind on our blog:  It’s that time of year again … #alssymp.

Because of the diversity of the talks presented at the Symposium, we categorised them into five key themes that follow the timeline ‘from bench to bedside’; biomedical research, diagnosis and prognosis, causes of MND, clinical trials and treatments, and improving wellbeing and quality of life. You can read more about each of these themes on our Symposium LIVE webpages.Read More »

Symposium abstracts available online

28th Abstract bookThe 28th International Symposium on ALS/MND in Boston, USA is fast approaching with only three weeks to go. Over 1,000 delegates will come from across the world to listen to over 100 talks and see around 450 posters. To see what will be discussed in these presentations, you can now download the full abstract book from the Taylor and Francis website (volume 18, S2 November 2017).

For an overview of the talks, you can visit the Symposium website or download a print version of the programme.

We will be reporting from the Symposium to update you on what was discussed in the sessions via the Symposium website and using #alssymp via our Twitter account @mndassoc.