Big find for patients with rare brain disease

Geneticists have discovered the genetic mutation that causes 15% of cerebellar ataxia cases. The discovery is a big step towards better patient support and treatment options.
Lizzie Thelwell
Lizzie Thelwell
Freelance Writer
Big find for patients with rare brain disease
Image credit: Harry Perkins Institute of Medical Research

Cerebellar ataxia is a rare neurodegenerative condition that causes people to slur their words and lose their overall coordination and balance – giving the impression that they’ve had too much to drink.

It usually develops when people are around 40 years old, stopping them from working and living the life they once had.

There is currently no cure and no treatment. Patients use aids such as crutches and wheelchairs to stop them from falling and keep them steady.

What is ataxia? | Johns Hopkins Medicine via YouTube

Although around 70% of patients with late-onset cerebellar ataxia remain without a genetic diagnosis, geneticists have recently discovered the genetic mutation responsible for 15% of cases.

“This really is a big find,” says Associate Professor Gina Ravenscroft from the Harry Perkins Institute of Medical Research who led the Perth arm of the international study.

“It has significant implications for people who are living with this disease, and we are excited to share it with them. They now know what has 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 a high proportion of French Canadians 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.

“He thought it was a new genetic cause of the disease that was possibly unique to French Canada. So he asked us to check our samples.”

The team in Perth already had samples from a cohort of patients with ataxia so they were able to test them quickly.

Dr Brais had 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 worked together since then.

“We worked with researchers in Canada, the UK, India and Germany, and our results showed the implications are much more wide-ranging and the mutation is present in other populations.”

Looking forward

This discovery will help to inform patients on reproductive issues as well as how best to manage their symptoms.

“If you have the mutation, you have a 50% chance of passing on the mutation to your children. You can choose to screen the embryo to ensure it hasn’t got the mutation.”

Now that the mutation has been discovered, Gina and her colleagues are working with pathology laboratory Pathwest and international colleagues to screen and collect the data of hundreds of existing patients around the world.

“We are excited to be able to support people with this life-changing disease by giving them better advice on what’s ahead and how to manage their symptoms,” says Gina.

“The discovery will also inform the design of potential therapies and hopefully enable the development of effective treatment in the future.”

Lizzie Thelwell
About the author
Lizzie Thelwell
Lizzie is a journalist, copywriter and communications professional. She writes about a wide variety of topics but has a particular interest in health and medicine.
View articles
Lizzie is a journalist, copywriter and communications professional. She writes about a wide variety of topics but has a particular interest in health and medicine.
View articles


We've got chemistry, let's take it to the next level!

Get the latest WA science news delivered to your inbox, every fortnight.


Creative Commons Logo

Republishing our content

We want our stories to be shared and seen by as many people as possible.

Therefore, unless it says otherwise, copyright on the stories on Particle belongs to Scitech and they are published under a Creative Commons Attribution-NoDerivatives 4.0 International License.

This allows you to republish our articles online or in print for free. You just need to credit us and link to us, and you can’t edit our material or sell it separately.

Using the ‘republish’ button on our website is the easiest way to meet our guidelines.


You cannot edit the article.

When republishing, you have to credit our authors, ideally in the byline. You have to credit Particle with a link back to the original publication on Particle.

If you’re republishing online, you must use our pageview counter, link to us and include links from our story. Our page view counter is a small pixel-ping (invisible to the eye) that allows us to know when our content is republished. It’s a condition of our guidelines that you include our counter. If you use the ‘republish’ then you’ll capture our page counter.

If you’re republishing in print, please email us to let us so we know about it (we get very proud to see our work republished) and you must include the Particle logo next to the credits. Download logo here.

If you wish to republish all our stories, please contact us directly to discuss this opportunity.


Most of the images used on Particle are copyright of the photographer who made them.

It is your responsibility to confirm that you’re licensed to republish images in our articles.


All Particle videos can be accessed through YouTube under the Standard YouTube Licence.

The Standard YouTube licence

  1. This licence is ‘All Rights Reserved’, granting provisions for YouTube to display the content, and YouTube’s visitors to stream the content. This means that the content may be streamed from YouTube but specifically forbids downloading, adaptation, and redistribution, except where otherwise licensed. When uploading your content to YouTube it will automatically use the Standard YouTube licence. You can check this by clicking on Advanced Settings and looking at the dropdown box ‘License and rights ownership’.
  2. When a user is uploading a video he has license options that he can choose from. The first option is “standard YouTube License” which means that you grant the broadcasting rights to YouTube. This essentially means that your video can only be accessed from YouTube for watching purpose and cannot be reproduced or distributed in any other form without your consent.


For more information about using our content, email us:

Copy this HTML into your CMS
Press Ctrl+C to copy