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)

A young male patient who presented with steroid-responsive parkinsonism, hemiplegia, thrombocytopaenia and systemic illness who was subsequently diagnosed to have systemic lupus erythematosus (SLE) is described. He later developed post-hemiplegic dystonia. Thalamic lesions on magnetic resonance imaging (MRI) are demonstrated. Clinical features and neuropathology of central nervous system lupus are discussed. This is the first report of SLE presenting with Parkinsonism, and the first to demonstrate anatomically-relevant MRI lesions in Parkinsonism associated with SLE.Copyright Lippincott-Raven Publishers
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PMID:Systemic lupus erythematosus presenting with steroid-responsive parkinsonism and post-hemiplegic dystonia. 1021 Aug 49

Background: Although clinically evident and MRI confirmed, basal ganglia involvement, is usual in primary antiphospholipid syndrome, extrapyramidal disorders such as parkinsonism and dystonia are very rare. We were unable to find any report in the literature on dystonia-parkinsonism in patients with primary antiphospholipid syndrome. Here we report an adult patient with dystonia-parkinsonism and primary antiphospholipid syndrome.Case report: A 60 year old, right-handed man came to our attention due to writer's cramp, bradykinesia and stiffness of his right hand. Neurological examination revealed constant, marked dystonic posturing, rigidity and bradykinesia of the right hand. Hyper-gammaglobulinemia was demonstrated on electrophoresis-serum IgG was increased. Anticardiolipin antibodies were examined by counterimmunoelectrophoresis (ELISA): IgG was negative, while IgM was positive. There was also slight thrombocytopenia. Magnetic resonance imaging brain scan axial T2W/UTSE revealed several hyperintense lesions in the basal ganglia and in the periventricular white matter and diffuse hyperintensity of the subcortical white matter bilaterally in the parietal regions. There was asymmetric parenchimal atrophy, more prominent in the left hemisphere. No clinical improvement was achieved by levodopa, dopamine agonists or anticholinergics. According to the criteria for primary antiphospholipid syndrome our patient had thrombocytopenia and high levels of IgG and IgM anticardiolipin antibodies so he was presumed to have a primary antiphospholipid syndrome.Conclusion: Various movement disorders may appear secondary to stroke, antiphospholipid syndrome, Behcet's disease or brain tumor. These cases may help in the understanding of pathophysiology of movement disorders. Dystonia and parkinsonism as well as other movement disorders may be associated with primary antiphospholipid syndrome.
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PMID:Antiphospholipid syndrome and dystonia-parkinsonism. A case report. 1124 96

Clinical syndromes induced by high intensity radiofrequency electromagnetic field chronic exposure are described. Persons injured by occupational exposure have been observed central nervous system changes in diencephalic syndrome form, cardio-vascular system changes revealed in atherosclerosis, isch(a)emic heart disease and coronary insufficiency rapid progressive expansion. General public living in territory of radar station exposure zone different functional disorders have been identified: vegetative dystonia (asthenovegetative syndrome), thrombocytopenia, decrease of blood coagulation index, and thyroid gland function changes. Observed diseases clinical variability may be determined by electromagnetic exposure characteristics.
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PMID:[Clinical monitoring in areas of exposure to radiofrequency electromagnetic fields]. 2378 12

The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, such as deafness, dystonia, and neutrophil dysfunction. We describe 2 different novel de novo missense ACTB mutations, c.208C>G (p.Pro70Ala) and c.511C>T (p.Leu171Phe), found by trio exome sequencing analysis of 2 unrelated patients: an 8-year-old boy with a suspected BRWS and a 4-year-old girl with unclear developmental disorder. The mutated residue in the first case is situated in the actin H-loop, which is involved in actin polymerization. The mutated residue in the second case (p.Leu171Phe) is found at the actin barbed end in the W-loop, important for binding to profilin and other actin-binding molecules. While the boy presented with a typical BRWS facial appearance, the girl showed facial features not recognizable as a BRWS gestalt as well as ventricular arrhythmia, cleft palate, thrombocytopenia, and gray matter heterotopia. We reviewed previously published ACTB missense mutations and ascertained that a number of them do not cause typical BRWS. By comparing clinical and molecular data, we speculate that the phenotypic differences found in ACTB missense mutation carriers might supposedly be dependent on the conformational change of ACTB.
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PMID:Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review. 3073 61