As you may have seen or read recently in the media, we have discovered a gene that causes a type of dementia called frontotemporal dementia. Before this discovery, we knew very little about the cause of this disease, including how to treat it effectively.
Frontotemporal dementia is a cruel brain disease; it affects people's behaviour and personality, and sometimes their ability to speak and understand words. This type of dementia affects people much younger than Alzheimer's disease and the symptoms are far more severe.
The gene we discovered – called the SIGMA Non-Opioid Intracellular Receptor 1 gene, or SIGMAR1 – causes abnormal clumps of protein to form in the brains of people with frontotemporal dementia, which is what causes the symptoms of the disease. We were able to find this gene with the help of a large Australian family with hereditary frontotemporal dementia. While not everyone with frontotemporal dementia will have a mutation or mistake in this particular gene, this discovery still helps us understand what might be going wrong in general in the brains of people with this disease.
One of the reasons we are so excited about this gene discovery is because there are existing drugs that act on the SIGMA 1 receptor that are already on the market and safe to use. At the moment, we are focusing on one drug in particular – haloperidol – which is used to treat schizophrenia.
We are currently testing haloperidol in animals, and are designing a clinical trial to test the drugs in humans. Hopefully we will know in about two years whether we have an effective treatment for this disease.
This is a very exciting finding, because currently there are no treatments that can slow down the progression of dementia, a disease which is going to affect more and more people as the population of Australia ages.
Can I be genetically screened?
We do perform genetic screens for the purpose of research for a number of genes, including SIGMAR1, that cause frontotemporal dementia. Due to ethical constraints, we do not deal with patients directly but rather through referring clinicians who wish to participate in our research.
Please note that we only recommend performing a genetic screen if there is a strong family history of the disease (i.e. there are many individuals in the family over several generations that have the disease). This is because the likelihood of finding a mutation is very small (less than a 1 in 100 chance) if there is no obvious family history.
If there is a strong family history and you wish to proceed with a genetic screen, you will need a referral from a clinician to see Professor John Hodges from the Frontier Group at Neuroscience Research Australia. Professor Hodges will then work with you to determine whether a genetic screen is the appropriate course of action for you.
Can I take the drug now?
We have already shown in our laboratory that haloperidol acts on the SIGMA 1 receptor. As already mentioned, we are currently conducting animal studies and planning a clinical trial to confirm our lab findings and determine the appropriate dose. Please note that until these trials are finished, we cannot endorse the use of this drug for treatment of frontotemporal dementia.
If you are interested in finding out more about frontotemporal dementia and our research, we invite you to visit our frontotemporal dementia patients and carers page.
Back to Your Health: Frontotemporal dementia
Visit the frontotemporal dementia patients and carers page
Visit our multimedia page to read and watch news stories about our discovery
