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)

Glutamic acid decarboxylase (GAD) activity was measured in specific divisions of the deep cerebellar nuclei of rats with an inherited dystonia. In 16-day-old dystonic rats there was a significant increase in GAD activity only in the nucleus interpositus (+26%). In 20-day-old dystonic rats GAD activity in all 3 cerebellar nuclei (fastigial, interpositus, dentate) was significantly increased compared to normal controls. The results indicate a spread of the anatomical locus of the neurochemical abnormality with time. During this period (postnatal days 16-20) there is a progressive worsening of the motor disorder in the affected animals.
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PMID:Glutamic acid decarboxylase activity in micropunches of the deep cerebellar nuclei of the genetically dystonic (dt) rat. 376 12

Glutamic acid decarboxylase (GAD) activity was studied in specific brain regions of a newly identified genetic (rat) model of human torsion dystonia. GAD activity was found to be significantly increased in the deep cerebellar nuclei of dystonic rats at 16, 20, and 24 days of age. GAD activity in the other regions examined (vermis, cerebellar hemispheres, caudate nucleus, and globus pallidus) did not differ from that of age-matched normal littermate controls. Diazepam treatment significantly reduced the frequency of dystonic movements in the mutant.
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PMID:Alterations in cerebellar glutamic acid decarboxylase (GAD) activity in a genetic model of torsion dystonia (rat). 673 79

The 'Wriggle Mouse Sagami (WMS)' is a new neurological mutant with severe dystonic movements of the trunk and extremities whose pathological characters are transmitted by an autosomal recessive gene (wri). Manifestations first appear at 10 days to 2 weeks after birth and progress until 12 weeks of age. In spite of the severe dystonic movements, no marked abnormalities had been found in the cyto- or myeloarchitecture of the central nervous system or that of the peripheral nerves, except for the impaired development of the dendritic trees of the Purkinje cells. In this study we quantitatively demonstrated decreased synaptic connections of parallel fibers on the dendritic spines of the Purkinje cells as early as 2 weeks after birth. On the other hand, synaptic boutons on the dendritic shafts and somata of the Purkinje cells and synaptic bouton-like structures which contained synaptic vesicles but without synaptic membrane specialization, were significantly increased in the molecular layer at 9 weeks of age. Glutamic acid decarboxylase immunohistochemistry suggested that some of these increased synaptic boutons and other bouton-like structures may have originated in GABA interneurons, such as stellate cells, basket cells and Golgi cells, and in the cerebellar nuclei. Because of the severity of the manifestations, it appears that synaptic alteration in interneurons also occurs in the other parts of the CNS.
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PMID:Abnormal synaptic architecture in the cerebellar cortex of a new dystonic mutant mouse, Wriggle Mouse Sagami. 768 93