Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

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 dopam...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2014-04, Vol.137 (Pt 4), p.1107-1119
Hauptverfasser:	OANNE NG, JUAN ZHEN, HOLMES MORTON, D, STRAUSS, Kevin A, PUFFENBERGER, Erik G, D'AGNANO, Daniela, ANIKSTER, Yair, CARDUCCI, Claudia, HYLAND, Keith, ROTSTEIN, Michael, LEUZZI, Vincenzo, BORCK, Guntram, MEYER, Esther, REITH, Maarten E. A, KURIAN, Manju A, ERREGER, Kevin, YAN LI, KAKAR, Naseebullah, AHMAD, Jamil, THIELE, Holger, KUBISCH, Christian, RIDER, Nicholas L
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Biological and medical sciences Child Child, Preschool DNA Mutational Analysis Dopamine Plasma Membrane Transport Proteins - deficiency Dopamine Plasma Membrane Transport Proteins - genetics Female Genetic Association Studies Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Immunoblotting Infant Male Medical sciences Movement Disorders - complications Movement Disorders - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Original Pedigree Phenotype Polymerase Chain Reaction Young Adult
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