Congenital Neurotransmitter Disorders: A Clinical Approach

Editors Georg Hoffman and Nenad Blau

Published by Nova Science Publishers Inc., New York in 2014

Dedicated to the memory of Professor Robert Surtees

This book provides the most up-to-date clinical information available on the diagnosis and treatment of paediatric neurotransmitter disorders including AADC deficiency.

The first chapter provides an essential guide to the diagnostic work-up of a child with a neurological disorder that is suspected to be a neurotransmitter defect. The general clinical presentation is discussed with the diseases separated into two categories: early-onset epileptic encephalopathies; and progressive extrapyramidal movement disorders that include AADC deficiency.

A comparative table of symptoms for all of the neurotransmitter related diseases is provided. Once a neurotransmitter disease is suspected the diagnosis of these conditions requires laboratory tests to be carried out. It is recommended that intensive metabolic analysis of blood and urine is performed prior to the lumbar puncture and also that neuroimaging results are carefully examined.

Details of CSF analysis as well as potential caveats and confounding variables are also described. Importantly, it is recommended that CSF investigations are carefully planned beforehand with the neurometabolic laboratory that will be performing the tests. This chapter highlights that these essential diagnostic facilities are not available in many countries. It also suggests that too few neurologists and paediatricians are familiar with the symptoms of paediatric neurotransmitter diseases and how to diagnose these conditions. The chapter also has some warnings about the potential misdiagnosis of patients especially with next generation sequencing.

In the book there is a dedicated chapter on AADC deficiency written by Georg Hoffmann and Birgit Assmann from the University Children’s Hospital Heidelberg. An appendix to the book discusses an AADC Research Trust funded project: the iNTD project to create databases of patients with paediatric neurotransmitter disorders and clinical guidelines.

The AADC Research Trust would like to encourage paediatricians, neurologists and other medical professionals to read this publication and gain a greater insight into the symptoms and diagnosis of AADC deficiency and related conditions. Only by increasing awareness of these rare conditions will we be able to improve the detection rate and enable patients to receive appropriate treatment as early as possible in their lives.

Professor Robert Surtees was an extremely valued member of The AADC Research Trust's Medical & Scientific 'Original' Advisory Panel, his knowledge is irreplaceable and his contribution to AADC deficiency and other neurotransmitter diseases will be hugely missed.

The AADC Research Trust would like to thank Prof Georg Hoffmann and Prof Nenad Blau for kindly referencing the AADC Research Trust and the JAKE database of patients with AADC deficiency.