TY - JOUR
T1 - Brain dopamine-serotonin vesicular transport disease and its treatment
AU - Rilstone, Jennifer J.
AU - Alkhater, Reem A.
AU - Minassian, Berge A.
PY - 2013/2/7
Y1 - 2013/2/7
N2 - We describe a disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay, and we describe evidence supporting its causation by a mutation in SLC18A2 (which encodes vesicular monoamine transporter 2 [VMAT2]). VMAT2 translocates dopamine and serotonin into synaptic vesicles and is essential for motor control, stable mood, and autonomic function. Treatment with levodopa was associated with worsening, whereas treatment with direct dopamine agonists was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development.
AB - We describe a disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay, and we describe evidence supporting its causation by a mutation in SLC18A2 (which encodes vesicular monoamine transporter 2 [VMAT2]). VMAT2 translocates dopamine and serotonin into synaptic vesicles and is essential for motor control, stable mood, and autonomic function. Treatment with levodopa was associated with worsening, whereas treatment with direct dopamine agonists was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development.
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U2 - 10.1056/NEJMoa1207281
DO - 10.1056/NEJMoa1207281
M3 - Article
C2 - 23363473
AN - SCOPUS:84873520463
SN - 0028-4793
VL - 368
SP - 543
EP - 550
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 6
ER -