Motor Neurone Disease (MND) is a progressive neurological disorder that leads to muscle weakness and wasting and is also known as ALS (Amyotrophic Lateral Sclerosis).

The Irish MND Research Group is a team of professionals who have developed an expertise in the clinical management of MND.

We provide the only specialist multidisciplinary clinic for motor neurone disease in Ireland. Patients who are referred to the clinic are seen within 2 weeks of receipt of referral. Over the past 15 years, we have cared for over 800 people with MND, and have been actively engaged in research into identifying the causes and finding effective treatments for this condition.

The incidence of MND is 1 in 30,000 Link We established a database of people with MND in the Republic of Ireland in 1994. The aim is to capture everybody with the condition, to learn about how frequently the condition occurs in Ireland, and to identify people with other conditions who were misdiagnosed with ALS. We have found that approximately 80 people in the Republic of Ireland develop MND annually, and that there are around 200 people affected by the condition at any time.

There are probably a variety of different causes of MND. It is likely that some people have a genetic susceptibility to developing the condition, and that environmental factors can interact with these genetic risks. These factors combine to affect the function of motor neurones Link. Although there has been a lot of research into possible environmental factors, no conclusive causes have been identified.

We and other groups have been interested in exercise as a risk for developing MND. We suspect that a lifetime background of intense exercise may slightly increase the risk of developing MND in some individuals. Our preliminary findings support this hypothesis, and a large European study is planned to establish whether this is truly the case.

MND can run in some families. This happens in up to 10% of patients. In the remaining 90% of cases, the disease occurs sporadically. Many groups have looked for genes causing familial MND. At least 5 genes are known to cause MND. However, the commonest by far is the gene SOD1, which accounts for 20% of familial MND in the United States. SOD1 mutations are rare in the Irish population. We have been looking for genes that might increase the risk of developing MND in non-familial MND. Our group found another important gene in about 1% of the population that can cause both familial and non-familial MND. This gene is called ANG, and makes a protein called angiogenin. Mutations in ANG seem to be most common in Irish and Scottish populations, but are still quite rare even in these populations. However, our discovery has shown that angiogenin is an important protein within the nervous system, and this has opened up a new direction in research that is likely to lead to the development of. approaches towards treatment.

Although uncommon, some people with MND can develop features of a specific form of dementia, which primarily involves the frontal lobes of the brain. This is called fronto-temporal dementia. Behaviour, ability to plan, and mental flexibility can be affected. The frequency of dementia in MND is unknown. A member of Irish research group is currently engaged in a study to determine the frequency, clinical features, and progression of cognitive impairment and dementia in MND.

We and other European groups have recently set up a new European database (EURALS) Link, which aims to collect information about MND from an enlarged population of over 25 million individuals. EURALS will be the biggest database of MND in the world, and will help us to identify trends in how the disease manifests, to identify possible environmental causes, and to engage in large clinical trials with new drugs.

We believe that ethnic background is important in determining the risk of developing MND and that some ethnicities are less at risk than others. If we could identify the genes that increase risk, and those that reduce risk, we could find new treatments that could be tailored to a person’s individual risk profile. We are working closely with a group of researchers in Cuba to study MND in different ethnic groups.

The aim of this collaboration is to determine whether people of African descent and those of mixed ethnic origin are less likely to develop ALS. We suspect that this might be the case, because we recently reviewed all of the available published evidence on ethnicity and ALS. We have shown that the existing evidence suggests that those of European origin may have a greater susceptibility to ALS than those of African or Asian origin. We and our collaborators in Cuba have also already demonstrated that spinal muscular atrophy, which is a form of inherited motor neuron disease of infancy, is more common in those of European origin than those of African origin.

Our group believes that that a central tenet of managing MND is to preserve and enhance quality of life (Qol). Quality of life is difficult to measure, as most scales use “health” as one of the areas of measurement. We therefore measured individualized quality of life in MND, using the SEIQoL, designed by our collaborators at the Royal College of Surgeons in Dublin. In SEIQoL, patients nominate what is important to them. Our work has shown that although health related quality of life declines as the disease progresses, individualized quality of life, as measured by SEIQoL does not. This is an important observation in assessing the impact of health care initiatives.

Our group was the first to conclusively demonstrate that multidisciplinary clinics for MND confer a survival advantage, independent of other factors. This is a very important finding for public health services and health planning. Our work has since been replicated in other countries.