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‘That DAT’ gene that causes dystonia-parkinsonism: broadening the phenotype

Kailash P. Bhatia
DOI: http://dx.doi.org/10.1093/brain/awu056 976-977 First published online: 19 March 2014

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Dopamine transporter (DAT) deficiency, a recessive disorder due to mutations in the encoding SLC63 gene, was first described by Kurian et al. (2009, 2011). The typical phenotype originally reported was infantile dystonia-parkinsonism with a characteristic metabolic profile in the CSF, namely a raised homovanillic acid: 5-hydroxyindoleacetic acid (HVA:5-HIAA) ratio, usually in excess of 4.0. Presynaptic DAT, expressed by dopaminergic neurons, is responsible for reuptake of extracellular dopamine in a Na+/Cldependent manner (Torres et al., 2003). In this issue of Brain, Ng et al. (2014) describe a new cohort of patients with dopamine transporter deficiency syndrome (DTDS) and evaluate the functional consequences of SLC6A3 mutations using in vitro heterologous expression.

The clinical significance of this paper is the new phenotypic associations. In addition to the classical presenation—infantile-onset progressive parkinsonism-dystonia—Ng et al. (2014) report cases who presented atypically, later in …

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