Brain dopamine-serotonin vesicular transport disease and its treatment

Jennifer J. Rilstone, Reem A. Alkhater, Berge A. Minassian

Research output: Contribution to journalArticlepeer-review

84 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)543-550
Number of pages8
JournalNew England Journal of Medicine
Volume368
Issue number6
DOIs
StatePublished - Feb 7 2013

ASJC Scopus subject areas

  • Medicine(all)

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