Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0008489 (chorea)
 2,102 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The pathophysiology of akinesia and chorea involve disruption of the motor basal ganglia circuit. This circuit begins with cortical output to the striatum, followed by projections from striatum to pallidum, pallidum to thalamus, and finally thalamus to cortex. Abnormal thalamic output to the frontal cortex, particularly the supplementary motor cortex, is responsible for chorea and akinesia. The substantia nigra and subthalamic nucleus are also important parts of this circuit. Chemical or pathological changes in these nuclei that lead to reduced thalamic outflow to the cortex are associated with parkinsonism. Most disorders affect the nigrostriatal dopaminergic projection. The overall consequence of loss of nigrostriatal dopamine is a loss of inhibitory input to the striatum. This feeds through the circuit resulting in reduced thalamic outflow. Local factors that may affect symptoms are the degree of dopamine loss, the involvement of ventral or dorsal parts of substantia nigra, effect on direct and indirect pallidal pathways, topographical representation of the body in the striatum, and the presence of parallel basal ganglia circuits serving cognition and mood. Ageing, dopa-responsive dystonia, juvenile dystonia-Parkinson syndrome and Parkinson's disease have different effects on the nigrostriatal tract. In Parkinson's disease the speed and regional variation in nigrostriatal dopamine loss are associated with a significant pre-symptomatic period, steady rate of progression and a particular topography of L-dopa dyskinesias.
 ...
PMID:Functional neuropathology in Parkinson's disease. 938 99

Dystonia is an interesting disorder characterized by involuntary movement of the body part or parts leading to abnormal deformed postures. The usual signs and symptoms are local pain, spasm and abnormal movements. Sensory trick is an important clinical phenomenon and is characteristic of dystonia. It is usually separated from other movement disorders such as chorea, athetosis, tics and myoclonus clinically. Various non-dystonic conditions simulate dystonia and need to be separated in view of different line of management. Improved understanding in molecular biology has helped in understanding of the disease. Confusing neuropathology and neurochemistry have deterred the finding of an effective drug, however empirical use of few drugs have improved the gloomy situation. Few conditions such as dopa-responsive dystonia have definite treatment. Recently use of botulinum toxin has provided beneficial response in hyper muscular contraction states such as dystonia and spasticity, Surgery and other non-medical therapies are effective in few situations.
 ...
PMID:A spectrum of dystonias-clinical features and update on management. 1127 44

Clinical heterogeneity is the prominent feature of spinocerebellar ataxia type 3 (SCA3) which is sometimes neglected and often impedes the timely diagnosis of patients. In this study, the clinical data of 201 unrelated Chinese SCA3 patients were retrospectively studied. The rare clinical features were summarized and the underlying genetic mutations were screened by direct DNA sequencing. Three patients were found primarily presenting with the rare clinical features, including dystonic phenotype without response to levodopa, chorea and memory decline, and hearing impairment, respectively. We firstly reported three diverse heterogeneities of SCA3 patients, which are quite uncommon in the Chinese SCA3 patients. Our results expanded the variable phenotypes of SCA3 and provided the explicit information for the rare and special SCA3 manifestations. Based on this new knowledge, we suggested that when the presentation was consistent with HD or DRD while negative in the corresponding genetic testing, SCA3 should be considered, and clinicians should divert partial attention to the examinations on the auditory system of SCA3 patients.
 ...
PMID:Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms. 2341 47