KING’S LYNN: Family research leads to medical breakthrough
A genetic study on a family with West Norfolk roots has led to a world medical breakthrough in the study of nerve systems.
A team led by former Lynn student Henry Houlden has identified the gene responsible for a rare form of dystonia, called hereditary whispering dysphonia, after research on a family from Heacham and Dersingham.
Dystonia is the term used to describe uncontrollable and sometimes painful muscle spasms caused by incorrect signals from the brain, which are thought to affect at least 70,000 people in the UK.
The sustained muscle contractions cause twisting, pain, stiffness and repetitive movements or abnormal postures. Many patients also suffer from balance problems, Parkinson’s disease and dementia.
Professor Houlden, head of neurogenetics at University College London’s Institute of Neurology, said: “The disorder may be hereditary affecting several family members.
“Treatment is difficult and has been limited to minimizing the symptoms of the disorder, since there is no cure available and therefore research into the causes of this disorder is essential.”
In the West Norfolk family, the disease has been passed from one generation to the next in more than 30 people since the mid-1850s.
Many members of the Heacham family emigrated to Australia in the late 19th century but there are still affected family members in this area.
Professor Houlden said: “In this neurological disorder, patients have progressive limb and neck stiffness and contusion with speech problems resulting in most people being unable to speak and exhibiting an unusual ‘hobby horse’ walking pattern.”
Now his team has published its findings that a change in the critical region of the gene was responsible for the disease.
He said: “We know the cause of very few neurological conditions and we have few treatments for patients. Finding families with inherited disorders and identifying the exact genetic cause is very important as it allows us to define the disease pathway.
“The finding of this defect opens a new mechanism and disease pathway we previously knew nothing about.”
Born in Wisbech, Professor Houlden attended Marshland High School until 1986, then King Edward VII High School in Lynn for A-levels until 1988.
He said: “My grandfather, Peter Day, owned the Fent Shop in Broad Street, Lynn, now run by my uncle.”
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Wednesday 22 May 2013
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