Brain Sciences


Researchers unlock the key to future treatment for incurable ataxia

27 October 2020

Scientists collaborating across two institutions – UCL’s IoN and Mayo Clinic – have identified a new test for drug discovery for ataxia and similar rare conditions.

UCL Institute of Neurology

A crucial new test that could speed up drug discovery for the treatment of a type of inherited ataxia has been developed by researchers from the Ataxia Centre at UCL Queen Square Institute of Neurology and from Mayo Clinic in Florida.

Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (SCA3), is a progressive neurodegenerative condition that is life-limiting and may lead to total physical dependency. There is currently no cure or treatment to stop the progression of the disease.

The most common symptoms of the condition are balance problems, loss of co-ordination, double vision, slurred speech and trouble swallowing. In addition, patients may develop lack of sensation and stiffness similar to Parkinson’s disease or multiple sclerosis.

The researchers discovered a technique for detecting the faulty protein ataxin 3 in CSF and plasma in SCA3 mutation carriers, with a perfect differentiation from healthy controls and patients with other neurological conditions. The test could be used in interventional clinical trials to develop treatments.

Professor Paola Giunti, Head of the Ataxia Centre and Research Associate at the IoN said: “It is exciting to have closely collaborated to the development of this crucial test that will contribute to the readiness of clinical trials in SCA3, a condition for which, so far, we do not have a cure. This will facilitate the discovery and implementation of new molecules for the treatment of this condition.”

Dr Hector Garcia-Moreno, Clinical Research Fellow leading clinical studies in Spinocerebellar Ataxias, Ataxia Centre, Department of Clinical and Movement Neurosciences, IoN said: “This assay constitutes a robust target engagement biomarker and will be used for the discovery of new treatments and for the interventional trials that are currently in the pipeline for SCA3. I am really thrilled to see the success of both our work and our research participants’ efforts.”

Professor Tony Schapira, Head of the Department of Clinical Movement Neurosciences, IoN said: "This novel technique will contribute to the development of new translational studies in such a rare condition as SCA3. It will open the way to identify similar tests for others types of inherited ataxias.”

The research project at UCL has been funded by the MRC/ JPND and CureSCA3 and is published in Science Translational Medicine.