Australian Study Seeks Genetic Roots of Cerebral Palsy

MONDAY July 21, 2008 -- Australian researchers are recruiting 10,000 people to participate in the world's largest study of the possible genetic causes of cerebral palsy.

The study will include 5,000 people from families with an affected child and 5,000 people from unaffected families. Researchers will collect genetic samples by taking cheek swabs from mothers and their children.

Cerebral palsy, which affects one in 500 children worldwide, is one of the most serious pregnancy/birth complications. People with cerebral palsy lack control of their movement and posture as a result of brain injury in the neuro-motor region. Symptoms range from poor muscle coordination to quadriplegia.

"Our study will investigate a key issue behind cerebral palsy: whether genetic factors make women more vulnerable to environmental risks that affect the brain of their unborn child. These risks -- such as prematurity and infections -- combined with genetic susceptibility mean that babies could be at double jeopardy of cerebral palsy," research leader Professor Alastair MacLennan, head of obstetrics and gynecology at the University of Adelaide, said in a university news release.

"Recent studies by our group suggest that cerebral palsy may be associated with genetic and other mutations that may increase blood clotting within the brain," MacLennan said. "An association between cerebral palsy and different types of herpes virus infection -- such as cold sores and chicken pox -- has also been discovered in South Australian studies. The next step is to see if this is true in a much large population, comparing the genetics of both mother and child."

It was once believed that low oxygen levels during birth caused cerebral palsy, but this is rarely the case, MacLennan said.

"Obstetric care and Caesarean deliveries have increased sixfold over the last 50 years, but the incidence of cerebral palsy cases has remained the same. Most of the cases are associated with problems during pregnancy and possible genetic susceptibility. Currently, there is no cure or way to prevent cerebral palsy," he noted.

If this study confirms that genetic mutations can lead to cerebral palsy, it may help lead to the development of gene therapy or drugs that can prevent the condition.

More information

The U.S. Centers for Disease Control and Prevention has more about cerebral palsy.

Posted: July 2008


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