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)

An Indian man with Wernicke's encephalopathy had nystagmus, pupillary changes and confusion, but the unusual and prominent features in his presentation were marked dystonia and choreo-athetosis, which responded rapidly to thiamine. The possible pathogenesis is discussed.
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PMID:Dystonia and choreo-athetosis in Wernicke's encephalopathy. A case report. 272 44

A 21 year old male, well-nourished and non-alcoholic, died after five weeks illness. He had suffered epileptic fits, bilateral internuclear ophthalmoplegia, bulbar and pontine paralysis, tetraparesia, ataxia and dystonia. A CT brain scan showed low density lesions of the striatum bilaterally. Post-mortem studies revealed pathological anomalies compatible with Leigh's disease, although the presence of haemorrhages and involvement of the mamillary bodies could also suggest Wernicke's encephalopathy.
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PMID:Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease. 357 37

A 67 year old woman with a two year history of laryngopharyngeal dystonia, spasmodic dysphonia, and parkinsonism succumbed to Wernicke's encephalopathy and died six months later. Necropsy showed, besides Wernicke's encephalopathy, degenerative changes in selected thalamic nuclei (dorsomedial, pulvinar, and the medial geniculate bodies) and the inferior olives and numerous cerebellar torpedoes. The substantia nigra and basal ganglia were spared. Immunostaining for prion protein was negative. This patient indicated a new type of presentation of so-called pure thalamic degeneration, or more precisely thalamo-olivary degeneration.
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PMID:Thalamo-olivary degeneration in a patient with laryngopharyngeal dystonia. 756 27

Complexins are presynaptic proteins that bind to the SNARE complex where they modulate neurotransmitter release. A number of studies report changes in complexins in psychiatric (schizophrenia and depression) and neurodegenerative disorders (Huntington's disease, Wernicke's encephalopathy and Parkinson's disease). Here, we characterize the behavioural phenotype of Cplx1 knockout (Cplx1-/-) mice. Cplx1-/- mice develop a strong ataxia in the absence of cerebellar degeneration. Although originally reported to die within 2-4 months after birth, when reared using an enhanced feeding regime, these mice survive normally (i.e. >2 years). Cplx1-/- mice show pronounced deficits in motor coordination and locomotion including abnormal gait, inability to run or swim, impaired rotarod performance, reduced neuromuscular strength, dystonia and resting tremor. Although the abnormal motor phenotype dominates their overt symptoms, Cplx1-/- mice also show other behavioural deficits, particularly in complex behaviours. They have deficits in grooming and rearing behaviour and show reduced exploration in several different paradigms. They also show deficits in tasks reflecting emotional reactivity. They fail to habituate to confinement and show a 'panic' response when exposed to water. The abnormalities seen in the behaviour of Cplx1-/- mice reflect those predicted from the distribution of complexin I in the brain. Our data show that complexin I is essential not only for normal motor function in mice, but also for normal performance of other complex behaviours. These results support the idea that altered expression of complexins in disease states may contribute to the symptomatology of disorders in which they are dysregulated.
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PMID:Profound ataxia in complexin I knockout mice masks a complex phenotype that includes exploratory and habituation deficits. 1600 Mar 19