Huntington’s disease is a neurological condition which gradually effects a person's physical, emotional and cognitive function. It is caused by a variation (‘genetic stutter’) in a person's genome, which is passed down from parent to child. The symptoms of Huntington's usually develop as a person approaches middle age and gradually worsen over time. Symptoms typically begin with jerky movements or twitching known as 'chorea'.
Some key symptoms may include:
- Mild twitching of the fingers and toes
- Lack of coordination and a tendency to knock things over
- Walking difficulties
- Dance-like or jerky movements of the arms or legs (chorea)
- Speech and swallowing difficulties.
- Short-term memory loss
- Difficulties in concentrating and making plans.
- Depression (around one third of people with Huntington's disease experience depression)
- Behavioural problems
- Mood swings, apathy and aggression.
Symptoms by the Better Health Channel
If a person's parent has Huntington's, they have a 50 percent chance of inheriting the gene mutation causing the disease. There is currently genetic testing available to see if an individual has inherited the gene variation from their parent or not before symptoms appear. Once symptoms begin, the life expectancy for someone with Huntington's is a further 10 to 25 years, although quality of life may be severely affected, particularly in later stages of the disease. However, approximately five per cent of patient’s have juvenile onset, which progresses far more rapidly. For more information about the risks of developing Huntington's or genetic screening, talk to a GP.
People with Huntington's have a 50% chance of passing it on to their children
About six people per 100,000 are affected by Huntington's
In Australia over 2,500 people have Huntington's
Causes and treatment
The cause of Huntington's is a gene abnormality that results in an excessive build-up of toxic forms of the Huntingtin protein, particularly affecting the basal ganglia and cerebral cortex regions of the brain, although other parts of the brain and body are affected. These brain regions are responsible for motor movement control and coordination, cognition, personality and emotions. This toxic protein build-up damages and eventually kills nerve cells in the brain, affecting neurological functions and causing Huntington’s disease.
While there is no cure for Huntington's, there is treatment available to assist with symptoms. Physical symptoms can be treated with ongoing physiotherapy and occupational therapy, as well as medication that can help alleviate the jerky movements. Cognitive and psychological therapy in combination with medication such as anti- depressants can help with the changes in mood, as well as assist with coming to terms with a diagnosis. Additionally, there is carer and government support that can be accessed to provide respite and assistance with day to day tasks.
How the Florey is making a difference
Our research into Huntington’s disease, led by Proffessor Anthony Hannan and colleagues, has shown for the first time that depression can be modelled, and is reduced by enhanced mental and physical activity. We have also identified key molecules involved in the cognitive symptoms (culminating in dementia) and psychiatric elements (the most common of which is depression) of the disorder. As well as providing the first evidence and mental and physical activity can be beneficial, we have also shown that high levels of chronic stress can be detrimental. Furthermore, we have successfully tested new preclinical therapeutic approaches, which will be taken into new clinical trials. This will have implications not only for this disease, but also for the understanding and treatment of dementia and depression in the wider community.
The preclinical research lead by Prof. Anthony Hannan, Dr Thibault Renoir and colleagues at the Florey has recently led to a new clinical trial, with national and international collaborators, targeting the early stages of the disease.
Support and information
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