Investigating a new treatment in SCA14

This study will expand on the previous preliminary results which found a reduction of glutathione
in the cerebellum of people with SCA14. 

Glutathione is an antioxidant that ordinarily protects cells from damage by oxidative stress, thus a reduction in glutathione could be linked to cerebellar degeneration. Oxidative stress occurs when the production of reactive oxygen is greater than the body's ability to detoxify the reactive intermediates. This imbalance leads to oxidative damage to proteins, molecules, and genes within the body. Since the body is incapable of keeping up with the detoxification of the free radicals, the damage continues to spread.

 

Ball-and-stick model of the glutathione molecule

Research

The researchers plan to use a non-invasive technique called MR Spectroscopy to detect changes in the level of the anti-oxidant glutathione in the brain in 12 people with SCA14.

The team at The Charité - University Medicine Berlin want to find a new, more reliable way of specifically measuring the level of glutathione reduction. This could potentially pave the way for a new therapy in the future which targets glutathione reduction. It could also potentially be used to detect for any glutathione reductions in other ataxias in the future. 

For example, a small preliminary study found that the drug N-Acetylcystein could be used to increase glutathione levels in a certain part of the brain in people with Parkinson’s disease. 

Although SCA14 is a rare form of ataxia it might be under-diagnosed as it is not routinely tested for in all hospitals. However, if a treatment were found the need for diagnosis would be even more important.

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The study will be jointly funded by Ataxia UK and the German ataxia charity DHAG.

Dr Sarah Doss and Dr Jan Rinnenthal, The Charité - University Medicine Berlin

Article Ataxia UK