Vesicular Monoamine Transporter 2 and Treatment of a Dopamine–Serotonin Disorder

Identification of a novel mutation led to symptom improvement with dopamine agonist therapy in affected family members.

The biogenic amine mediator–related syndromes are well-described neurological disorders that include nine enzyme deficiencies and one transporter disorder. Now, researchers report the identification of a novel disease in this category, in eight children of a consanguineous Saudi Arabian family.

The patients had an infantile-onset neurological disorder characterized by delayed ambulation or failure to ambulate, developmental delay, parkinsonism, dystonia, oculogyric crises, mood disorder, and autonomic instability. Five parents of the children had histories of depression. The investigators discovered that the patients were homozygous for a mutation in SLC18A2, which is known to encode vesicular monoamine transporter 2 (VMAT2). Unaffected fami…

Reviewing Author

Michael S. Okun, MD

Disclosures

Consultant/Advisory BoardParkinson’s Foundation; Tourette Association of America

Speaker’s BureauMedscape/WebMD CME, Movement Disorders Society CME, American Academy of Neurology CME

RoyaltiesBooks4Patients; Demos; Cambridge; Taylor and Francis; Robert Rose; Public Affairs

Grant/Research SupportNational Institutes of Health; Parkinson’s Foundation; Tourette Association of America; University of Florida Foundation

Editorial BoardsTremor and Other Hyperkinetic Movements; JAMA Neurology

Leadership Positions in Professional SocietiesParkinson’s Foundation (Medical Advisor)