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Geneticists have discovered a genetic mutation that causes 15% of cases of cerebellar ataxia. The discovery is a big step towards better patient support and treatment options.
Cerebellar ataxia is a rare neurodegenerative condition that causes people to slur their words and lose overall coordination and balance – giving the impression that they’ve had too much to drink.
It usually develops when people are in their 40s, preventing them from working and living the life they once had.
There is currently no treatment and no cure. Patients use aids such as crutches and wheelchairs to prevent falls and keep them still.
What is ataxia? | Johns Hopkins Medicine via YouTube
Although about 70% of patients with late-onset cerebellar ataxia remain without a genetic diagnosis, geneticists recently discovered a genetic mutation responsible for 15% of cases.
“This is a really big find,” says Associate Professor Gina Ravenscroft of the Harry Perkins Institute of Medical Research, who led the Perth arm of the international study.
“This has significant implications for people living with this disease and we are excited to share it with them. Now they know what caused their ataxia and will be able to make plans for the future.”
An international effort
The study began in French Canada when neurologist Dr. Bernard Brais discovered that a high proportion of French people with the disease had a genetic mutation.
The mutation is similar to the type that triggers Huntington’s disease.
“Dr. Brais tested large families in Montreal to map which part of the genome had the mutation,” says Gina.
The Perth team already had samples from a cohort of ataxia patients, so they could test them quickly.
Dr. Brais spent a year with the Perth group on sabbatical as a Visiting Professor supported by the Raine Medical Research Foundation in 2007. The groups have been working together ever since.
“We worked with researchers in Canada, Great Britain, India and Germany and our results showed that the implications are much wider and the mutation is present in other populations as well.”
To look forward to
The discovery will help inform patients about reproductive problems as well as how best to manage their symptoms.
“If you have a mutation, you have a 50% chance of passing the mutation on to your children. You can choose to test the embryo to make sure it doesn’t have the mutation.”
Now that the mutation has been discovered, Gina and her colleagues are working with the Pathwest pathology laboratory and international colleagues to screen and collect data from hundreds of existing patients worldwide.
“We are excited to support people with this life-changing disease by giving them better advice about what lies ahead and how to manage their symptoms,” says Gina.
“This discovery will also inform the design of potential therapies and hopefully enable the development of effective treatments in the future.”
This article was originally published on Particle. Read the original article.
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