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Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

9 Jun 2014

Abstract excerpt

Parkinsonism and attention deficit hyperactivity disorder (ADHD) are widespread brain disorders that involve disturbances of dopaminergic signaling. The sodium-coupled dopamine transporter (DAT) controls dopamine homeostasis, but its contribution to disease remains poorly understood. Here, we analyzed a cohort of patients with atypical movement disorder and identified 2 DAT coding variants, DAT-Ile312Phe and a...

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PMID: 24911152
DOI: 10.1172/jci73778

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