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Movement disorders in young people related to ADHD
Date:7/2/2014

Researchers at the University of Copenhagen and the Copenhagen University Hospital have identified a particular genetic mutation that may cause parkinsonism in young people. The mutation interferes with the brain's transport of the important signal substance dopamine and may also plays a role in mental diseases, e.g. ADHD. The findings have just been published in the scientific Journal of Clinical Investigation.

Being one of the most important signal substances in the brain, dopamine is particularly important for the control of movements and reward mechanisms in the brain. In the new study, Danish researchers have focused on a special protein, the dopamine transporter (DAT). DAT is a transport protein, which controls the effect of dopamine by mediating re-uptake of released dopamine from the synaptic cleft to the nerve cell. This is a very fine balance and even small fluctuations can have major consequences for brain function:

"We can now for the first time document that mutations in the DAT-encoding gene can cause parkinsonism in young people. Furthermore, our studies show that the gene mutation is likely to contribute to the development of ADHD", explains Ulrik Gether, Professor at the Department of Neuroscience and Pharmacology, University of Copenhagen.

The researchers believe that DAT mutations may cause or predispose to the development of an entire spectrum of brain diseases from relatively mild psychiatric diagnoses such as ADHD to serious movement disorders in infants such as Dopamine Transporter Deficiency Syndrome:

"Children born without a functional dopamine transporter develop serious movement disorders from birth, which may result in premature death. We have now identified mutations in the DAT-encoding gene as a novel cause of parkinsonism in adult patients and possibly also to complex mental disorders," says Freja H. Hansen, postdoc at the Department of Neuroscience and Pharmacology.


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Contact: Ulrik Gether
gether@sund.ku.dk
45-28-75-75-48
University of Copenhagen The Faculty of Health and Medical Sciences
Source:Eurekalert

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