Study finds link between genetic mutations, cerebral palsy

Study finds link between genetic mutations, cerebral palsy


People tend to think of cerebral palsy as a single disorder.

Actually, the term refers to a group of conditions that share two common factors — they interfere with muscular coordination, and their symptoms first appear during childhood.

Cerebral palsy conditions aren’t progressive but they have serious consequences, including poor coordination, swallowing difficulties, and stiff or weak muscles. Some patients also suffer from seizures and cognitive issues.

It’s believed that cerebral palsy conditions are caused by brain abnormalities or brain damage, but the exact triggering mechanism is unclear.

Genetic conditions have been blamed for a small percentage of cases. Now it appears that scientists should take a closer look at this possibility.

A study published recently in the journal Nature Communications investigated whether there might be shared genetic abnormalities between children with cerebral palsy and their parents. About 115 families were involved.

The scientists took saliva samples from each child and both parents, then ran sophisticated tests to look for genetic abnormalities called copy-number variations. These are sections of a gene where a sequence of D-N-A coding has been duplicated too many times.

There are some known copy-number variations associated with cerebral palsy. In the study, about 10 percent of the families had one.

The results also indicated that 7 percent of the children had a previously unknown copy-number variation and shared it with at least one parent.

This was predicted by the researchers, and they believe these new copy-number variations could provide important clues to the origins of cerebral palsy.

Looks like medical science may be a little closer to solving the mystery of cerebral palsy.

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