Article
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Brain : a journal of neurology - 1 Apr 2014
Ng Joanne, Zhen Juan, Meyer Esther, Erreger Kevin, Li Yan, Kakar Naseebullah, Ahmad Jamil, Thiele Holger, Kubisch Christian, Rider Nicholas L, Morton D Holmes, Strauss Kevin A, Puffenberger Erik G, D'Agnano Daniela, Anikster Yair, Carducci Claudia, Hyland Keith, Rotstein Michael, Leuzzi Vincenzo, Borck Guntram, Reith Maarten E A, Kurian Manju A
Abstract excerpt
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhood with a milder...
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