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Discovery Reveals Brain Abnormality And Mirror Movement Link

Summary: A new study reports a condition that forces people to involuntarily mirror movements in opposing limbs may be linked to agenesis of the corpus callosum.

Source: Uinversity of Queensland.

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 UQ’s Queensland Brain Institute said ACC was a partial or complete absence of nerve fibres connecting the right and left sides of the brain.

“The corpus callosum allows communication between the two hemispheres,” Professor Richards said.

“Earlier studies on people with a DCC mutation showed they had mirror movement disorder but a normal corpus callosum.

“However, 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 that’s 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.

Image shows the DCC gene.

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. NeuroscienceNews.com image is adapted from the University of Queensland press release.

“People 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.

“These individuals move both limbs together concurrently, but the condition isn’t debilitating.

“People with the disorder develop coping mechanisms to suppress the movement and tend to be quite ambidextrous.”

Using high-field magnetic resonance imaging, UQ scientists identified people with mirror movement disorder had changes in brain wiring that explained their mirror movements.

“While 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.

About this neuroscience research article

Source: Donna Lu – Uinversity of Queensland
Image Source: NeuroscienceNews.com image is adapted from the University of Queensland press release.
Video Source: The video is credited to kevburgh.
Original Research: Abstract for “Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance” by Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart & Christel Depienne in Nature Genetics. Published online February 27 2017 doi:10.1038/ng.3794

Cite This NeuroscienceNews.com Article
Uinversity of Queensland “Discovery Reveals Brain Abnormality And Mirror Movement Link.” NeuroscienceNews. NeuroscienceNews, 2 March 2017.
<http://neurosciencenews.com/mirror-movement-brain-abnormality-6186/>.
Uinversity of Queensland (2017, March 2). Discovery Reveals Brain Abnormality And Mirror Movement Link. NeuroscienceNew. Retrieved March 2, 2017 from http://neurosciencenews.com/mirror-movement-brain-abnormality-6186/
Uinversity of Queensland “Discovery Reveals Brain Abnormality And Mirror Movement Link.” http://neurosciencenews.com/mirror-movement-brain-abnormality-6186/ (accessed March 2, 2017).

Abstract

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

“Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance” by Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart & Christel Depienne in Nature Genetics. Published online February 27 2017 doi:10.1038/ng.3794

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