15 September 2004 - 'Rare' ataxias may be more common than Huntington's Disease

New research suggests that ataxia, a little-known and devastating neurological condition, is significantly under-diagnosed in the UK and may be 4-8 times more prevalent than previously thought.

A team lead by Dr Patrick Chinnery of Newcastle University found that the actual figure of people in the northeast of England with spinocerebellar ataxia 6 (SCA6), or at risk of developing the condition, is 5.21 per 100,000, or about 1 in 19,000.

In most European studies, SCA6 represents 10 – 20% of dominantly inherited ataxias. Dr Chinnery concludes, “Using the conservative figure of 20%, it is possible to estimate the minimum prevalence of dominant ataxias within our region at 8 in 100,000, or 1 in 12,500 adults. This compares to previous estimates of 1-2 in 100,000. It is likely that the true prevalence of dominantly inherited ataxias is much greater than was previously thought, and is probably more common than Huntingdon’s disease. This has major implications for the allocation of healthcare resources, such as the availability of genetic testing.”

Dr Julie Greenfield, Research Projects Manager for Ataxia UK explained,
“Under-diagnosis is worrying for a number of reasons. For the individuals concerned and their families, the situation compounds their distress. In research terms, the consequences are equally profound. Unless enough patients take part in research, some projects just can’t go ahead.”

Ataxia UK Chief Executive Alastair Macdougall commented, “The research proves what Ataxia UK has long suspected. The ataxias are much more common in the UK than we believed previously and whole families are placed under tremendous additional stress and distress as a result.

“Many health professionals, as well as the general public, do not know about ataxia or its effects. So we have a duty to inform the medical profession, as well as the public.

“We need to make sure people with ataxia have ‘one-stop’ access to a whole range of medical services and the latest information on research developments. They need sensitive and informed support from specialist staff. Ataxia UK is establishing a nationwide network of Ataxia Centres to provide this support.”

The ataxias are a series of rare neurological conditions. Early symptoms may be mild, such as unsteady walking and slurred speech. People with ataxia are commonly accused of being drunk, which causes them great distress. As the condition progresses, people with ataxia may lose their mobility, speech and independence.

Dr Chinnery’s research paper is published as
Ref Craig et al: Molecular Epidemiology of SCA6, Annals of Neurology 2004:55:752-755

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15 September 2004 - 'Rare' ataxias may be more common than Huntington's Disease