Brain imaging reveals insights into movement disorder: Rare Disease Day feature

L-R: Patient advocate Marcus and CCS researcher Dr Ian Harding
talk about the experience of living with the illness and the
challenges of research into the disease. Video (2:09 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers 

Friedreich ataxia (FA) is a debilitating genetic disorder that causes progressive damage to the nervous system and heart. Defined by problems with gait, balance and motor coordination, speech and swallowing, its symptoms generally start in childhood or adolescence and progressively worsen, causing increasing difficulty with basic daily activities and self-care, and ultimately leading to premature death 20 to 30 years after first symptoms. It affects 2-4 people per 100 000.

Dr Ian Harding and his team in the CCS’s Department of Neuroscience have recently made some exciting advances in knowledge using a variety of magnetic resonance imaging (MRI) and positron emission tomography (PET) brain imaging techniques.

 
In a paper published last month, Dr Harding showed that the immune system of the brain is active in areas of pathology in people with FA, and that this chronic immune activity may contribute to neurodegenerative processes. “This work provides the first piece of evidence that targeting brain inflammation may help slow neurodegeneration in FA, although more work is necessary before clinical trials can be considered,” Dr Harding said.

In a study published last year, an international collaboration led by Dr Harding’s lab collated MRI data from eight sites around the world to improve the power and significance of the collective research efforts. The approach is vital given that each site is only able to recruit a small number of patients due to the rarity of the disease. “By pooling our data, we were able to perform a much more rigorous analysis of brain structure, and for the first time, to define the stages of progressive brain degeneration. This work has set the stage for a number of further international efforts that are in progress to better characterise and track brain changes in people with FA,” Dr Harding said.

The team has contributed to the recent launch of a new mobile app for tracking symptom severity over time (www.thefaapp.org/) and last year initiated a new international neuroimaging study of brain and spinal changes in FA, together with colleagues at Monash University's Turner Institute for Brain and Mental Health (www.monash.edu/medicine/trackfa). 

See the video of a patient advocate, Marcus, and our CCS researcher, Dr Harding, respectively talking about the lived experience of the disease and its research challenges. 

This Rare Disease Day feature is presented by the CCS Community and Researcher Engagement (CaRE) committee. See more about CaRE: www.monash.edu/medicine/ccs/community-engagement