Diagnosis and treatment of neurotransmitter-related disorders

Neurotransmitter disorders constitute a spectrum of neurologic conditions that share several clinical features depending on the severity and pattern of neurotransmitter deficiency or excess. These uncommon conditions can be suspected based on their clinical features, and several can be confirmed by cerebrospinal fluid analysis of neurotransmitters and their metabolites. Certain disorders, such as autosomal dominant dopa-responsive dystonia caused by GTP cyclohydrolase deficiency, or Segawa syndrome, respond dramatically to medical therapy. This article summarizes current knowledge regarding the clinical manifestations, diagnosis, and treatment of these important disorders.