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CHICAGO: A study led by researchers at Washington University School of Medicine in St. Louis, the University of Arizona College of Medicine in Phoenix, and Yale University has identified mutations in single genes that can be responsible for at least some cases of cerebral palsy.
To better understand genetic contributions to cerebral palsy, the researchers sequenced the entire protein-coding portion of the genomes from 250 participants, cerebral palsy patients and both parents, seeking mutations that could play causal roles in cerebral palsy.
The analysis identified two genes, FBXO31 and RHOB, in particular, that when mutated are each alone sufficient to cause cerebral palsy. In general, the researchers found that many of the genes implicated in cerebral palsy have important roles in the wiring of brain circuitry during early stages of development.
The researchers also noted that some of the genes newly implicated in cerebral palsy have in past research been associated with autism, intellectual disability and epilepsy.
“For some individuals with cerebral palsy, they only have difficulty with movement and have no other disabilities whatsoever,” said senior author Michael Kruer of the University of Arizona College of Medicine in Phoenix. “But we also see huge overlap among neurodevelopmental disorders. For example, more than half of cerebral palsy patients have some type of learning or intellectual disability. About 40 percent have epilepsy, and 6 percent to 8 percent have autism.”
In about 12 percent of the cerebral palsy patients in the study, the causal genetic mutations were acquired by chance, not inherited from either parent. In about 2 percent of the patients in the study, the mutations were inherited from both parents, neither of whom had cerebral palsy.
The remaining 86 percent of cases could have environmental causes, or contributions from other genetic variations that will require a larger study to reveal, or a combination of genetic mutations and environmental interactions that the researchers are still working to understand.
“This study provides clues to where we can begin to design treatments,” said Sheng Chih Jin, an assistant professor of genetics at Washington University.
Cerebral palsy can affect gait, balance and posture. It does not worsen over time but varies widely in severity, with some patients able to walk unaided, while others may use walkers or wheelchairs. According to the Centers for Disease Control and Prevention, it affects about two to four children per 1,000 globally.
