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Trends Neurosci. 2013 Dec;36(12):717-25. doi: 10.1016/j.tins.2013.09.003. Epub 2013 Oct 18.

New genetic insights highlight 'old' ideas on motor dysfunction in dystonia.

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Vlaams Instituut voor Biotechnologie (VIB) Centre for the Biology of Disease and KU Leuven, Department of Human Genetics, Campus Gasthuisberg, 3000 Leuven, Belgium.


Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfunctional and pathogenically linked to mTOR signaling in L-DOPA-induced dyskinesias (LID). These new data suggest that striatal DA responses are central to primary dystonia, even when symptoms do not benefit from DA therapies. Here we integrate these new findings with current understanding of striatal microcircuitry and other dystonia-causing insults to develop new ideas on the pathophysiology of this incapacitating movement disorder.


GNAL/Gα(olf); dopamine; dystonia; mTOR; signal transduction; striatum

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