Media release

From: Murdoch Children's Research Institute (MCRI)

Below is an explanation of the research from author Paul Lockhart: 

• Murdoch Children’s Research Institute researchers in collaboration with researchers at Walter and Eliza Hall Institute, the Royal Victorian Eye and Ear Hospital and research teams in Germany and the USA have found that a fault in the FGF14 gene to be the most common genetic cause of adult-onset ataxia described to date. Ataxia is the medical term for unsteadiness. It is a major cause of disability in the community. The FGF14 protein produced by this gene is thought to be required for correct brain function and the gene fault appears to reduce production of this key protein 
• This discovery was enabled by application of advanced next generation sequencing and computing processes, which together with access to DNA analysis from multiple individuals with ataxia from Australia and Germany provided an opportunity to discover this new and common genetic cause of ataxia.
• Because less than 30% of individuals with a clinical diagnosis of ataxia receive a genetic diagnosis, this work will allow many individuals to now know the cause of their condition where this was not previously possible. 
• Finally, achieving a genetic diagnosis confers a number of benefits including ending the diagnostic odyssey, improved prognostication and has possible implications for reproductive choices. This means couples where one has the FGF14 gene fault can take steps to prevent their children having the condition such as through testing of embryos produced by IVF.