Researchers unlock the key to future treatment for incurable ataxia

A simple new blood 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 the blood of SCA3 mutation carriers through a simple blood test.

The researchers can now also detect this protein in cerebrospinal fluid (CSF) – but this involves a lumbar puncture and researchers said using a blood test will remove the need for patients to undergo this procedure.

Being able to identify this faulty protein will help in clinical trials because researchers will be able to test whether new treatments can successfully lower levels of this protein. In this way drug discovery will accelerate.

Professor Paola Giunti, Head of the Ataxia Centre and Research Associate at the IoN said: “It is exciting to have now a 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.”

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.