What is Friedreich ataxia? 

What is Friedreich ataxia?
Friedreich ataxia is an inherited, progressive, neurological condition characterised by increasing unsteadiness of gait (the way a person walks), loss of balance, impaired sensation in the arms and legs, muscle weakness and changes in heart function. 

Who does it affect?  
Friedreich ataxia affects about 1 in 40,000 people in Australia and is more prevalent in people with European ancestry. About 1 in 100 people have a single copy of the faulty gene that causes Friedreich ataxia, which is called FXN. Symptoms typically start at around 10 years-of-age. 

What are the symptoms? 
The first symptom of Friedreich ataxia is usually unsteadiness. Parents may notice that their child falls over or appears to be clumsier than other children of the same age. They may also notice curvature of the spine (scoliosis), changes in sensation of the limbs or high arches in the feet. Investigations of heart function may reveal thickening of the heart wall in people with Friedreich ataxia.  

As the condition progresses people with Friedreich ataxia find it increasingly hard to walk and ultimately need to use a wheelchair. This occurs on average, 15 years after the first symptom. They may also find it hard to talk and hear clearly, have changes in their vision and increasingly need help to complete everyday tasks. Friedreich ataxia shortens lifespan, with the average age at death being around 40 years-of-age. 

What causes Friedreich ataxia? 
Friedreich ataxia is inherited in an autosomal recessive way, which means that affected individuals inherit a copy of the faulty FXN gene from both parents. People that have a single copy of the faulty FXN gene (carriers) are unaffected so usually do not know they carry the faulty gene. 

Inheriting both copies of the faulty FXN gene results in the body producing insufficient quantities of a protein called frataxin. Frataxin is important for function of the mitochondria (the energy producing "batteries" of the cells). Without sufficient frataxin some cells in the nervous system and heart die, which results in symptoms of Friedreich ataxia. 

What are the gaps in research we are trying to fill? 
We are trying to find and test treatments for Friedreich ataxia. If a treatment can result in someone with Friedreich ataxia producing sufficient frataxin then this would be expected to result in slowed progression of the condition and potentially reversal of some symptoms.  

Many proposed treatments therefore aim to increase the amount of frataxin a person with Friedreich ataxia can produce. These treatments include medications such as resveratrol and gene therapies.  

Gene therapy is an exciting treatment that involves introducing a healthy copy of the gene that is faulty in Friedreich ataxia. Other treatments aim to assist a person with the condition to manage the effects of reduced frataxin, such as helping the cells to stay alive. Examples of such treatments are antioxidants.  
 
What research is taking place now? 
The Friedreich Ataxia Clinical Research Programme at MCRI is one of the largest in the world. Currently we are conducting an exciting clinical trial evaluating how effective a drug called resveratrol is in improving the symptoms of Friedreich ataxia. While we search for a cure, we are also developing treatments that are available immediately, such as intensive physiotherapy.  

We continue to improve the measurements that we can use in clinical trials such as state-of-the-art MRI scanning of the brain and instrumented measurements of movement including a spoon that has a device built in to measure the arm movements of the user. We look forward to the day when individuals diagnosed with Friedreich ataxia can be offered treatments that will ensure this debilitating and unforgiving condition is relegated to history.  

Reference:
Delatycki M & Bidichandani S. Freidreich ataxia-pathogenesis and implications for therapies. Neurobiology of disease. 2019; 132. doi.org/10.1016/j.nbd.2019.104606

Author:
Associate Professor Louise Corben is a MRFF Next Generation Career Development Fellow based in the Bruce Lefroy Centre in the Murdoch Children's Research Institute. In this role she coordinates the Friedreich ataxia clinical research programme. 

To get involved: For details on the Friedreich Ataxia Clinical Research Programme contact