Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In neurodevelopmental disorders, the characteristic symptoms appear age-dependently along with the functional and morphological development of the affected neurons and the neuronal pathways. Most of them have the primary lesion in the subcortical structures as these mature earlier, which include the aminergic neurons of the brainstem and the midbrain having important roles for development of the higher cortical function (HCF). Thus, to clarify the pathophysiologies of the symptoms appearing age-dependently makes it possible to demonstrate the process of development of the HCF. Here, I reviewed the characteristic symptoms and their pathophysiologies of Rett syndrome, DYT-1, autosomal dominant GTP cyclohydrolase I (ADGCH I) deficiency, Tourette syndrome (TS) and Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), and suggested that the brainstem aminergic neurons modulating the locomotion have roles for development of the frontal cortex, the dopaminergic neurons and basal ganglia pathways involving in the action dystonia for motor execution and the serotonergic and the dopaminergic neurons projectioning to the nonmotor basal ganglia thalamocortical circuits for development of the frontal area, the targets of the circuits. While, postural dystonia, tics in GTS and symptoms in EAOH reflect the development of the causative neurons and the neuronal systems.
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PMID:[Visual child neurology]. 1515 53