Neuroimaging findings in children with paediatric neurotransmitter diseases
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Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to γ-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients. For patients with monoamine biosynthesis disorders, the functional evaluation of dopaminergic transmission also plays an important role. Understanding of the possible neuroimaging changes in paediatric neurotransmitter diseases is therefore of great value for the investigation of these patients.
KeywordsTyrosine Hydroxylase Dopamine Transporter Tyrosine Hydroxylase Gene Gaba Metabolism Oculogyric Crisis
aromatic l-amino acid decarboxylase
γ-amino butyric acid
- GTPCH I
GTP cyclohydrolase I
positron emission tomography
single-photon-emission computed tomography
succinic semialdehyde dehydrogenase
The symposium was supported in part by R13 NS 60363 from the NIH NINDS and Office of Rare Diseases (ORD), and the Johns Hopkins University School of Medicine.
- Miller DW, Abercrombie ED (1999) Role of high-affinity dopamine uptake and impulse activity in the appearance of extracellular dopamine in striatum after administration of exogenous l-DOPA: studies in intact and 6-hydroxydopamine-treated rats. J Neurochem 72:1516–1522. doi: 10.1046/j.1471-4159.1999.721516.x PubMedCrossRefGoogle Scholar
- Pearl PL, Gibson KM, Acosta MT, et al (2003a) Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 60:1413–1417.Google Scholar