Discovery reveals brain abnormality and mirror movement link
The University of Queensland News Mar 18, 2017
A condition forcing people to involuntarily mirror movements in opposing limbs has been linked to a common developmental brain disorder.
Scientists from The University of Queensland collaborated with international researchers to discover mutations in a specific human gene  DCC – led to a condition known as agenesis of the corpus callosum (ACC).
Professor Linda Richards of UQÂs Queensland Brain Institute said ACC was a partial or complete absence of nerve fibres connecting the right and left sides of the brain.
ÂThe corpus callosum allows communication between the two hemispheres, Professor Richards said.
ÂEarlier studies on people with a DCC mutation showed they had mirror movement disorder but a normal corpus callosum.
ÂHowever, the DCC gene was known to cause ACC in mice. It was previously thought that the gene had different functions in animals and people, but we now know thatÂs not the case. The scientists identified that the position of the mutation in the DCC gene determined whether it caused mirror movement disorder alone, or caused the disorder in combination with a corpus callosum malformation.
More than half the individuals with DCC mutations in the latest study, published in the journal Nature Genetics, had congenital mirror movement disorder.
ÂPeople with mirror movement disorder move one limb  usually the hand, but it can involve the feet as well  and they are unable to inhibit the same movement in the other limb, Professor Richards said.
ÂThese individuals move both limbs together concurrently, but the condition isnÂt debilitating.
ÂPeople with the disorder develop coping mechanisms to suppress the movement and tend to be quite ambidextrous.Â
Using high–field magnetic resonance imaging, UQ scientists identified people with mirror movement disorder had changes in brain wiring that explained their mirror movements.
ÂWhile there are several genes associated with intellectual disability and agenesis of the corpus callosum, this is one of the first genetic mutations identified that has a milder developmental outcome, Professor Richards said.
Key research collaborators included Associate Professors Paul Lockhart and Rick Leventer from the Murdoch Childrens Research Institute, and Professor Christel Depienne from the Pitié–Salpêtrière Hospital in Paris.
Professor Richards said families affected by disorders of the corpus callosum should contact AusDoCC, a national advocacy group.
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Scientists from The University of Queensland collaborated with international researchers to discover mutations in a specific human gene  DCC – led to a condition known as agenesis of the corpus callosum (ACC).
Professor Linda Richards of UQÂs Queensland Brain Institute said ACC was a partial or complete absence of nerve fibres connecting the right and left sides of the brain.
ÂThe corpus callosum allows communication between the two hemispheres, Professor Richards said.
ÂEarlier studies on people with a DCC mutation showed they had mirror movement disorder but a normal corpus callosum.
ÂHowever, the DCC gene was known to cause ACC in mice. It was previously thought that the gene had different functions in animals and people, but we now know thatÂs not the case. The scientists identified that the position of the mutation in the DCC gene determined whether it caused mirror movement disorder alone, or caused the disorder in combination with a corpus callosum malformation.
More than half the individuals with DCC mutations in the latest study, published in the journal Nature Genetics, had congenital mirror movement disorder.
ÂPeople with mirror movement disorder move one limb  usually the hand, but it can involve the feet as well  and they are unable to inhibit the same movement in the other limb, Professor Richards said.
ÂThese individuals move both limbs together concurrently, but the condition isnÂt debilitating.
ÂPeople with the disorder develop coping mechanisms to suppress the movement and tend to be quite ambidextrous.Â
Using high–field magnetic resonance imaging, UQ scientists identified people with mirror movement disorder had changes in brain wiring that explained their mirror movements.
ÂWhile there are several genes associated with intellectual disability and agenesis of the corpus callosum, this is one of the first genetic mutations identified that has a milder developmental outcome, Professor Richards said.
Key research collaborators included Associate Professors Paul Lockhart and Rick Leventer from the Murdoch Childrens Research Institute, and Professor Christel Depienne from the Pitié–Salpêtrière Hospital in Paris.
Professor Richards said families affected by disorders of the corpus callosum should contact AusDoCC, a national advocacy group.
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