What causes ataxia?

It is important to remember that ataxia is a symptom and may occur as a result of many different underlying conditions (such as MS), and may also occur due to head trauma or intoxication. Ataxia not due to any of these factors may be inherited (caused by a faulty gene which is passed down through families) or non-inherited (sporadic).

The most common inherited progressive ataxia worldwide is Friedreich’s ataxia, which is caused by a defect in the gene which is responsible for producing the protein frataxin. Research has already shown that the resulting deficiency in frataxin affects the function of mitochondria in cells and makes them more susceptible to oxidative stress damage. Discovering how a gene works is crucial to identifying possible ways to treat the condition.

To date around 28 genes have been identified which cause spinocerebellar ataxia, most of which have been named by number (e.g. SCA1, SCA2, SCA6) and over 30 other types of inherited ataxias have been identified, many of which have also been linked with certain genes.

The table below contains details of identified genes for the inherited ataxias.

Research is ongoing to identify other genes which cause inherited cerebellar ataxias and discover how they exert their effects.
However there are still many people who do not have a specific diagnosis for their inherited ataxia. These people would be diagnosed as having idiopathic cerebellar ataxia and there are many researchers focussing on finding new genes and new types of ataxias. Advances which have made in these areas in recent months include the discovery of the link between the SCA11 gene and a particular tau protein which is also implicated in other neurodegenerative conditions such as Alzheimers. See here for more information on this research.

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What causes ataxia?