Neurotransmitter Disorders

Opladen, Thomas; Hoffmann, Georg F.

doi:10.1007/978-3-642-40337-8_31

Cited by 1 publication

(1 citation statement)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The relevant enzymes and transporters are listed in Table 1. The clinical presentation is determined by the type and severity of the underlying disorder [18] and ranges from intermittent focal dystonia and dystonia-parkinsonism to severe, lethal infantile encephalopathies. In adulthood these diseases may cause behavioral and mood disorders [11], [20], [25].…”

Section: Introductionmentioning

confidence: 99%

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Opladen

Cortès‐Saladelafont

Mastrangelo

et al. 2016

Molecular Genetics and Metabolism Reports

Self Cite

View full text Add to dashboard Cite

IntroductionNeurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood.Methods and resultsThe International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders.ConclusionThe iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.

show abstract