Motor neurone disease

HEALTH INFORMATION

Improving our understanding of the causes of MND

WHAT WE KNOW

Motor neurone disease (MND) is a neurodegenerative disease that causes rapidly progressive muscle weakness. Specifically, the disease affects nerve cells (motor neurons) that control the muscles that enable you to move, speak, breathe and swallow.

MND is also known as Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s disease. Approximately 1400 people in Australia are living with this disease. MND typically affects people in their mid-50s and survival is approximately 2-5 years from the onset of symptoms. Although there is currently no cure for MND, an anti-glutamatergic medication is available and slows the progression of the disease.

We are trying to improve our understanding of what causes the neurons to die by studying patients with MND using novel electrical and magnetic tests. We also in the process of conducting a drug trial in the hope that it slows the progression of this devastating illness.

OUR LATEST RESEARCH

Frontotemporal dementia and motor neurone disease

This project’s objective is to develop cell culture and mouse models to study underlying pathomechanisms and develop/test new treatments.

Positional cloning of a chromosome 16 dementia / motor neurone disease gene

The aims of this project are to undertake the biological characterisation of this novel neurodegeneration gene. We are also examining a panel of commercially available and clinically relevant agonists and antagonists to modulate key pathways involved in Alzheimer’s disease and other neurodegenerative disorders.

Eating and metabolic changes in FTD and MND

We have looked at the impact of overeating on body weight, cholesterol and insulin levels and relating all of these changes to regions of brain pathology as demonstrated by MRI imaging. We are now extending these studies to investigate patients with motor neurone disease and with Alzheimer’s as well as those at risk of genetic FTD.

Genetics of frontotemporal dementia

The laboratory at the NeuRA are conducting longitudinal studies of the first degree relatives of people with these known mutations who are at risk of developing the disease to find the earliest brain changes. We are also looking for new genes responsible for families with FTD & MND. We hope these genetic studies will open doors to a better understanding of the biology of FTD, and eventually treatment.

Deficits in emotion processing and autobiographical memory and their impact on carers

How is the processing of emotion impaired in FTD? How does it affect the ability to remember meaningful and important information from one’s life? How does it affect interpersonal relationships? How do these deficits evolve with time? These are some of the questions Professor Hodges and his team are trying to answer in this research project.

Coping with everyday life disabilities

We are interested in understanding the difficulties patients face in their everyday routines, and why these difficulties occur. Our aim is to develop strategies to overcome these difficulties impacting on everyday life and limit the impact of this disease in both patients’ and families’ lives.

Advancing knowledge on FTD by using a range of research methods

Professor Hodges and his team of researchers aim to advance knowledge on a broad front by using a range of research methods (neuropsychology, behavioural measures, brain imaging, etc) to improve the care, management, and treatment of FTD.

What else is happening in Motor neurone disease research at NeuRA?

FEEL THE BUZZ IN THE AIR? US TOO.

‘Progressive. Incurable. Terminal. Nothing matters… I am going to die.’

‘There are days that I just cry like a baby. I’m meant to be the provider, the strong one. No son should have to change the underwear of their 57 year old father.’ Shin Liu is a man you want to know... kind, articulate and with love in his heart. At 57 years old however, Shin has planned his funeral. Two years ago, Shin was diagnosed with motor neurone disease (MND). Unlike many cancers or heart disease, there is not a single thing the medical profession can do to stop MND. This excruciating disease twists and contorts the human body in the most horrific way, and it quickly destroys the ability to move, speak, swallow and breathe. Life expectancy post diagnosis is 2.5 years. But NeuRA researchers are making exciting progress toward it's defeat. After years of meticulous research, we've learnt that in more than 90% of MND cases a protein called TDP-43 is responsible for the changes in motor neurones. In pre-clinical (non-human) trials, we have found that this protein can be controlled by a specially engineered peptide sequence (i.e. medication) which has the potential to stop MND in its tracks. But here is the most exciting development… we are observing improvements in movement, behaviour and memory upon administering this medication! This is innovative, ground-breaking research and we need your help to accelerate this research, which will in time enable clinical trials in people living with MND. Will you support or research today?
APPEAL