Article
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
The Lancet. Neurology - 1 Jan 2011
Kurian Manju A, Li Yan, Zhen Juan, Meyer Esther, Hai Nebula, Christen Hans-Jürgen, Hoffmann Georg F, Jardine Philip, von Moers Arpad, Mordekar Santosh R, O'Callaghan Finbar, Wassmer Evangeline, Wraige Elizabeth, Dietrich Christa, Lewis Timothy, Hyland Keith, Heales Simon, Sanger Terence, Gissen Paul, Assmann Birgit E, Reith Maarten E A, Maher Eamonn R
Abstract excerpt
BACKGROUND: dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and molecular characterisation, reduce diagnostic delay and misdiagnosis, and provide insights into the pathophysiological...
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