Thoughts

Carpe Diem!

 

 

 

 

 

ATAXIA

 

You’ll be probably saying “What is ataxia?” and “Why should I help?”  Well to answer the first question, the new leaflet ‘what is ataxia’ explains how the different types of ataxia are inherited see http://www.ataxia. org.uk/pages/ information- publications. html, this is a free ‘online’ publication by Ataxia UK but briefly it is as defined by them -

What is ataxia?

Ataxia is the name given to a group of neurological disorders that affect balance, coordination, and speech. There are many different types of ataxia that can affect people in different ways.  

Who gets ataxia?

Anyone of any age can get ataxia, but certain types are more common in certain age groups. For example, people with Friedreich’s ataxia are usually diagnosed in childhood or adolescence.   

How many people have ataxia?

Around 10,000 adults in the UK have a type of ataxia. Ataxia UK is currently funding research to find out how many children have the condition – it’s thought there are several thousand.  

Is there any cure?

Some forms of ataxia are treatable, but in most cases there is still no cure. We are funding a wide range of research projects to try to find treatments that can help ataxia, and ultimately to find a cure.  

What causes ataxia?

It's 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 (eg SCA1, SCA2, SCA6, etc,.) and over 30 other types of inherited ataxias have been identified, many of which have also been linked with certain genes.

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. 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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