Huntington's Disease Symptoms Appear Even A Decade Before Diagnosis

by Tanya Thomas on  December 5, 2010 at 7:28 AM Research News
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Symptoms of Huntington's disease, a new Australian research has revealed, are displayed more than a decade before patients are likely to get a clinical diagnosis.
 Huntington's Disease Symptoms Appear Even A Decade Before Diagnosis
Huntington's Disease Symptoms Appear Even A Decade Before Diagnosis

These early effects of the disease don't affect day-to-day functioning, but will help drug developers evaluate treatments that target the early stages of the disease, reports New Scientist.

Huntington's is a fatal and incurable brain condition whereby a faulty gene makes brain cells commit suicide en masse. It causes problems in communication, mental processes and movement.

Within the faulty gene, a specific sequence called CAG is repeated too many times. Although "environmental" factors such as exercise may slow Huntington's progression, the number of CAG repeats accurately predicts the age of illness onset. For example, someone with around 40 repetitions is likely to get their first symptoms in late middle age.

Previous studies have found that several years before the disease manifests itself, the brains of people with the mutation undergo subtle changes, with a thinning of the regions involved in motor function.

To find out whether how these changes affected people with the Huntington's gene before clinical symptoms begin, Julie Stout of Monash University in Melbourne, Australia, and her colleagues selected 119 people who had the gene but no symptoms.

The volunteers were predicted to get clinical symptoms around 10 years later, on average, based on their age and number of CAG repeats.

Subjects were asked to draw circles within a ring as quickly and accurately as possible for 45 seconds. They then repeated the task, but with their hands obscured and an image of what they were drawing on a screen in front of them - a task that involves more advanced visual-motor coordination.

The team compared this group with 112 people who did not have the gene and 120 people who already had Huntington's symptoms.

In the first task, the 'pre-manifest' group drew an average of 25 circles in 24 seconds, while those without the Huntington's gene drew around 40.

In the second task, the pre-manifest group strayed past the boundaries of the ring more often and took longer to correct errors, said Stout.

"Normally, if you see your squiggle is going out of the circle, you correct it.

But pre-manifest patients were out of the circle for longer," she said.

On average, for every circle drawn, the pre-manifest group made around three errors, while those without the gene made one. As expected, those with Huntington's were the slowest and least accurate of all the groups in both tests.

Danny Hatters, a molecular biologist at the University of Melbourne, said the study was a convincing demonstration that the Huntington's mutation begins disrupting normal cellular events 'very early in age and long before clinical diagnosis'.

"The more we understand about the early stages of the disease, the better able we will be to develop new drugs," he added.

Source: ANI

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