Motor Neurone Disease (MND)
Motor Neurone Disease (MND) also known as amyotrophic lateral sclerosis is a fatal neurodegenerative disease resulting in progressive weakness of voluntary muscles throughout the body. The weakness is secondary to degeneration and eventual loss of motor neurons within the brain and the spinal cord.
The rate of progression of MND is unique in each person, as is the area of the body that is affected. As the motor neurones deteriorate, the signals that they carry from the brain to the muscle become too weak to make all the muscle fibres contract, thus causing muscle weakness. As the motor neurones continue to degenerate, the muscles become weaker and wastes.
Frontotemporal Dementia (FTD)
Frontotemporal dementia (FTD) represents a group of disorders that are caused by neurodegeneration in the frontal or temporal lobes of the brain, areas involved in planning and decision making, memory, inhibition, emotion, language and speech processes. Like MND the presentation and progression of FTD is unique to each individual sufferer.
Recently it has been discovered that a large percentage of MND patients also suffer from FTD. Previously it was thought that only a small proportion of patients with MND experienced cognitive symptoms however, it is now believed that 20-50% of patients with MND meet the criteria for FTD. The recent discovery of the C9orf72 gene’s relevance to MND in 2012 has revealed further links between the two syndromes.
Professor Matthew Kiernan and one of his patients recently featured in a video for the University's [[i||Pave the Way]] giving day.
The Brain and Mind Research Institute (BMRI) is home to Australia’s pre-eminent MND specialist Professor Matthew Kiernan, who as the Bushell Chair of Neurology is jointly located at the BMRI and Royal Prince Alfred Hospital (RPAH).
The BMRI is also home to world-leading researchers in other neurology specialties, including multiple sclerosis and neuropathology and hosts the Multiple Sclerosis Brain Bank and RPA Department of Neuropathology.
These facilities bring together researchers the University of Sydney Brain and Mind Research Institute, and the Royal Prince Alfred Hospital and provide opportunities for translational neurology research, training and clinical services unparalleled anywhere in Australia.
Please visit the ForeFront MND Clinic Clinical Studies list for further information on the clinical studies being carried out.
- Assessment of nerve and cortical excitability in hereditary and acquired neurological disorders
- Clinical assessment of functional disability in motor neuron disease
- Brain and spinal cord donation for motor neurone disease research
- Australian motor neurone disease registry
- Imaging of nerve and muscle injury in neurological diseases
- Patient decision making in motor neuron disease
- Identifying clinical markers of c9orf72 mutation carriers
- Eating, autonomic and sexual dysfunction in frontotemporal dementia and motor neurone disease
- Biomarkers for motor neurone disease
- Assessment and treatment of psychopathology in motor neurone disease
- Clinical phenotypes and neurophysiological and immunological biomarkers in patients with inflammatory neuropathies
We are also looking to recruit healthy volunteers to participate in our research as controls.