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

Japanese encephalitis (JE) is associated with a variety of movement disorders including transient form of pakinsonian features, dystonia and miscellaneous movement disorders. The neurotransmitters have important role in movement disorders. However their role in different brain regions in relation to behavioral activities in animal model of JE is not understood. The present study was aimed to investigate the behavioral parameters, the levels of catecholamine in brain regions--thalamus, midbrain, corpus striatum and frontal cortex on 0, 10 and 20 days post inoculation (dpi) with histopathological observations. Twelve day old Wistar strain rats were inoculated intracerebrally with a dose of 3 x 10(6) pfu of JE virus. Spontaneous locomotor activity (SLA) and grip strength were monitored. The levels of catecholamine were estimated using HPLC-ECD and histopathological changes were observed using haematoxylin and eosine staining. A significant decrease in SLA and grip strength was observed in JEV infected rats as compared to controls on 10 and 20 dpi. The levels of norepinephrine, dopamine, 3,4-dihydroxyphenylacetic acid, homovanillic acid, and serotonin were significantly decreased in all the brain regions studied with respect to controls. We did not find significant recovery in catecholamine levels and locomotor activities up to 20 dpi and any significant correlation between behavioral changes and neurotransmitter levels. However histopathological studies revealed mild reduction in degree of damage on 20 dpi. The present study demonstrates the involvement of different brain regions in altered locomotor activity which may be associated with reduction in catecholamine levels in rat model of JE.
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PMID:A study of motor activity and catecholamine levels in different brain regions following Japanese encephalitis virus infection in rats. 1963 Nov 96

The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia. Brain imaging was performed with the use of magnetic resonance imaging scan and 99m Tc-ethyl cysteinate dimmer single photon emission computed tomography (Tc-ECD SPECT). Clinical neurological examination disclosed gait dystonia. Marked swallowing difficulty due to tongue and feeding dystonia was observed. Both siblings were found to be heterozygous for a substitution in exon 22 (c.2191C>T) and for a deletion in exon 35 (c.3995_3996delinsA) leading to mutation in VPS13A. After being administered L-dopa for three months, both subjects showed significant symptomatic improvement documented by reduced DMDS scores. It is concluded that VPS13A mutation testing may improve diagnosis of dystonia and recognition of atypical ChAc phenotypes. It seems that L-dopa could be effective in the treatment of dystonia due to VPS13A mutations.
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PMID:Chorea-acanthocytosis presenting as dystonia. 2497 74