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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.

It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa-responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa-responsive dystonia. However, the actual status of dopaminergic systems in asymptomatic cases is unknown. In the autopsied putamen of an asymptomatic GCH1 mutation carrier, we found that brain biopterin loss (-82%) paralleled that reported in dopa-responsive dystonia patients (-84%). However, tyrosine hydroxylase protein and dopamine levels (-52 and -44%, respectively) were not as severely affected as in symptomatic patients (exceeding -97 and -88%, respectively). Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa-responsive dystonia symptomatology.[1]

References

  1. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Furukawa, Y., Kapatos, G., Haycock, J.W., Worsley, J., Wong, H., Kish, S.J., Nygaard, T.G. Ann. Neurol. (2002) [Pubmed]
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