• DOI:10.1212/WNL.0b013e3181e9aeea
• Corpus ID: 207117693

Movers and shakers

@article{Patterson2010MoversAS,
  title={Movers and shakers},
  author={Marc C. Patterson},
  journal={Neurology},
  year={2010},
  volume={75},
  pages={15 - 17}
}

• M. Patterson
• Published 6 July 2010
• Medicine
• Neurology

Lumbar puncture was introduced by Wynter1 as a therapy for increased intracranial pressure in tuberculous meningitis, and was popularized as a diagnostic technique by Quincke.2 The test remains indispensable for diagnosing CNS infection, inflammatory diseases, and raised intracranial pressure. The diagnostic potential of the CSF has continued to expand, as methods have become available for reliably measuring analytes that are present in very low concentrations.

In this issue of Neurology ®, Brun and colleagues3 report on a cohort of patients with aromatic l-amino acid decarboxylase (AADC) deficiency, one of a family of disorders of biogenic amine synthesis that have been recognized since the classic description of dopa-responsive dystonia by Segawa et al.4 more than 3 decades ago. Because they most often declare themselves in childhood, these diseases have become known as pediatric neurotransmitter disorders (PNDs). Although each of these disorders has characteristic clinical features, there are common manifestations that should suggest the presence of a PND: fluctuating movement disorders, intermittent disruption of eye movements, and variable delays in development, with or without seizures and hypotonia.

A grasp of the basic biochemistry is essential to …