Neurological conditions /

Ataxia

Ataxia is an umbrella term for a group of disorders that affect co-ordination, balance and speech. It describes the lack of muscle coordination when a voluntary movement is attempted. It may affect any motion that requires muscles to work together to perform a function – from walking, to picking up an object, to swallowing. Ataxia is commonly a symptom of an underlying medical problem – such as a brain tumour or MS - but some ataxias are either inherited or ‘idiopathic’, with no clear cause.

What is ataxia? 

There are different types of ataxia and they fall into three main categories:

  • Hereditary - passed on through families and can start in childhood.
  • Acquired – caused by illness or injury such as brain tumours, stroke, multiple sclerosis and alcoholism.
  • Idiopathic – where the brain is damaged over time for reasons that are unknown.

Spinocerebellar ataxia

Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterised by degenerative changes in the part of the brain related to the control of movement (cerebellum) and sometimes the spinal cord.

There are a number of different types of SCA, and these are classified according to the particular mutated gene that underlies that condition. These different types may have different signs and symptoms, but all are characterised by problems with movement that tend to get worse over time.

Affected people may experience the following: 

  • Problems with coordination and balance
  • Uncoordinated walk
  • Poor hand-eye coordination
  • Abnormal speech
  • Involuntary eye movement
  • Vision problems
  • Difficulty processing, learning and remembering information

Depending on the type of SCA, signs and symptoms can onset anytime from childhood to late adulthood.

There is no cure for SCA. Some symptoms can be treated with medicine and therapy, and the best options will depend on the particular signs and symptoms experienced.

For most people, symptoms get progressively worse, severely affecting their ability to walk and talk, and to live independently.

Friedreich's ataxia

Friedreich's ataxia is the most common type of hereditary ataxia. It is thought to affect at least one in every 50,000 people.

Symptoms usually develop before the age of 25 years. As well as the problems with co-ordination, movement and balance seen in other forms of ataxia, symptoms of Friedreich's ataxia can include: 

  • Abnormal curvature of the spine (scoliosis)
  • Total or partial loss of vision and hearing
  • Diabetes
  • Thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness, and an irregular heart beat
  • Loss of sensation in the hands and feet (peripheral neuropathy)

The symptoms of Friedreich's ataxia usually get gradually worse over time. People with the condition tend to have a shorter-than-average life expectancy.

Ataxia-telangiectasia

Ataxia telangiectasia (AT) is a rarer type of hereditary ataxia. Symptoms usually begin in early childhood.

The name itself comes from the characteristic small spider-like clusters of red blood vessels seen in the corner of the eyes and on the cheeks, known as telangiectasias.

Other signs and symptoms of AT include: 

  • Difficulty walking - most affected children need to use a wheelchair by the age of 10 years
  • Increasingly slurred, slow and unclear speech
  • Difficulty swallowing
  • Very slow eye movements, meaning that the person has to move their head a lot to compensate
  • A weakened immune system, which increases vulnerability to infections
  • An increased risk of cancer

The symptoms of AT tend to get worse quite quickly. People with the condition generally don't live beyond their mid-twenties.

Research

We are funding research by Professor Henry Houlden at UCL Institute of Neurology, looking to identify the genes underlying spinocerebellar ataxia: