Hunting for the culprits of a disabling condition | Action Medical Research

Hunting for the culprits of a disabling condition

5 July 2001
A Cambridge scientist is trying to track down the genes responsible for an hereditary condition that can leave sufferers severely disabled. Leading medical charity Action Research has funded more than £74,000 towards a new study into Hereditary Spastic Paraplegias (HSPs), which robs thousands of people of a fully active life. HSPs are a diverse group of neurodegenerative conditions in which the central nervous system (the brain and spinal cord) is damaged, causing progressive weakness and stiffness of the legs, and giving patients poor control over their muscles. Leading the new two-year project is Dr Evan Reid, of the Department of Medical Genetics, at Cambridge’s Addenbrooke's Hospital. He says: ‘Sufferers usually experience increasingly laboured walking which may eventually require a wheelchair. Some patients also suffer additional problems, including muscle wasting, seizures, mental retardation, abnormal movements and impaired vision.’ There are as many as 6,000 people estimated to be affected in the UK and no treatment is currently available to prevent or slow down the disease. Symptoms of HSP may occur alone, or in more complicated forms. ‘Pure’ HSP (the less complicated type), however, is probably the most common and problems can start at any time, between early childhood and late adulthood. During the new project, Dr Reid will turn detective and analyse some 400 DNA samples from more than 60 local families. This will enable him to hunt for genes involved with pure HSP, which have been located to three separate chromosome areas. The study ought to improve our understanding of the molecular factors responsible for maintaining a normal healthy spinal cord. Importantly, it will also assist in genetic counselling for families affected by HSP and open up the possibility of predictive testing and prenatal testing. ‘In the longer term’, Dr Reid adds, ‘The work should ultimately provide a foundation for further studies that could target effective treatments for these patients.’ Action Research is famous for pioneering hip replacement surgery and bringing ultrasound into the medical world, among many other breakthroughs. It currently funds a number of projects in which researchers are seeking to identify faulty genes, as part of its overall commitment to overcoming disease and disability. John Grounds, director of campaigns and communications, says: ‘We pride ourselves on our efforts to push back the frontiers of science. This new project has a very real chance of making a positive impact on patients and their relatives.’ Action Research, which is fast approaching its 50th anniversary, is dedicated to helping overcome disease and disability for children, families and the elderly across the UK. The charity’s Touching Lives Campaign aims to raise £2m for vital medical research and more details can be found at www.action.org.uk For further information and interviews, please contact Nicole Duckworth in the Action Research press office on 01403 327403 Fax: 01403 210541, or email nduckworth@action.org.uk ISDN facilities are available. Fact-file:*What is HSP?HSP is a genetic condition where the long nerve cells in the corticospinal tract - the main pathway that transmits signals from the brain to the spinal cord - degenerate.The amount of damage that is done and where, determine which muscles are affected and how severely. *Is there any treatment?There is no specific treatment to prevent, slow, or reverse HSP, but the muscles can be improved through surgery, therapy and walking aids.*What is the prognosis?This can vary from person to person. Some sufferers are seriously disabled, whereas others are less so and lead a productive and full life. The majority of people with HSP have a normal life expectancy.
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