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

Comparison of the rate of HLA antigens I in 81 patients with frequently occurring sympathoadrenal paroxysms (SAP) associated with vegetovascular dystonia and 113 healthy subjects revealed the increase of the number of antigen B12 carriers among the patients as compared to the healthy subjects' group. The number of antigens A9, B35 in SAP patients was elevated whereas that of B18, B38 and B40 decreased. SAP related to age-associated hormonal rearrangements were marked by antigens Cw4 and A1, the grave SAP patterns by B12, SAP without nocturnal paroxysms and the early disease onset by the lack of antigen A19. The dominant gene that determines the onset of SAP is localizes in the HLA area. It may be associated with a hypothetical gene analogous to the locus implicated in the determination of the threshold of neuromuscular excitability of rats. It is not excluded that such a relationship is mediated via the blood content of Mg2+.
 ...
PMID:[HLA antigens in persons with a predisposition to frequent sympathetic-adrenal paroxysms]. 133 53

Two siblings with atypical methylmalonic aciduria and progressive encephalopathy are reported. Initial symptoms were failure to thrive and growth retardation from the first year of life, progressing to severe mental retardation, microcephaly, dystonia, spasticity and cataracts. The amount of methylmalonic acid excreted in the urine was substantially lower than in classical methylmalonic acidemia and was not reduced by vitamin B12 therapy. The activity of methylmalonyl-CoA mutase and the overall assay of propionic acid metabolism in cultured fibroblasts were normal. The primary defect in this probably new autosomal recessive disorder associated with methylmalonic aciduria is currently not known.
 ...
PMID:Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome? 758 37

The cause of primary dystonia remains unknown. Several reports point to immune system disturbances in primary dystonia and a recent study demonstrated hyperhomocysteinemia in cervical dystonia. Homocysteine (HCY) is an amino acid and elevated HCY concentrations were shown to be associated with immune system activation and increased neopterin serum concentrations. We examined HCY serum concentrations together with serum markers of immune activation in patients with different types of primary dystonia. Eighty-three patients with different types of primary dystonia were included and investigated at least 3 months following botulinum toxin treatment. Thirty-six healthy volunteers with similar age and sex distribution served as controls. Total serum HCY, kynurenine, and tryptophan concentrations were determined by high-performance liquid chromatography; neopterin, folate, and vitamin B12 concentrations were measured by immunoassays. Routine blood analysis, including C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and white blood count (WBC), was performed. Patients with primary dystonia had significantly higher HCY concentrations compared to controls. Among the dystonia subtypes, no significant difference of HCY serum concentrations was observed. CRP and ESR were within the normal range in >90% of the patients and all had normal WBC. Neopterin, kynurenine, and tryptophan serum concentrations were similar in patients and controls and not correlated with HCY serum concentrations. The results provide evidence against enhanced cellular immune activation in patients with primary dystonia. However, hyperhomocysteinemia was present in all dystonia subtypes and unrelated to immune activation in this study. HCY is a neuronal excitotoxic amino acid and hyperhomocysteinemia is considered an independent vascular risk factor. Further studies are required to define the background of hyperhomocysteinemia in primary dystonia.
 ...
PMID:Homocysteine and serum markers of immune activation in primary dystonia. 1610 20

Patients with vitamin B12 deficiency have protean neurological manifestations that are often insidious. Acute onset of cerebellar dysfunction and extrapyramidal manifestations like dystonia and chorea are rather uncommon in adults. We describe a patient who manifested with acute onset of language dysfunction, chorea and ataxia. There was no history of hypertension, diabetes or ischemic heart disease. He had low serum vitamin B12 and elevated serum homocystine levels. He improved dramatically following B12 replacement therapy. Our patient provides insight into the pathophysiological mechanism of this rare manifestation. Further the importance of considering vitamin B12 deficiency, in country like India, where vegetarian food practice is quite common, is being emphasized.
 ...
PMID:Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. 1867 79

Deficiency of vitamin B12 produces protean effects on the nervous system, most commonly neuropathy, myelopathy, cognitive and behavioural symptoms, and optic atrophy. Involuntary movements comprise a relatively rare manifestation of this readily treatable disorder. Both adults and infants deficient in vitamin B12 may present with chorea, tremor, myoclonus, Parkinsonism, dystonia, or a combination of these, which may precede diagnosis or become apparent only a few days after parenteral replacement therapy has begun. The pathogenesis of these movement disorders shows interesting parallels to certain neurodegenerative conditions. The clinical syndrome responds well to vitamin B12 supplementation in most cases, and an early diagnosis is essential to reverse the haematological and neurological dysfunction characteristic of this disorder. In this article, we elucidate the association of vitamin B12 deficiency with movement disorders in adults and in infants, discuss the pathogenesis of this association, review previously reported cases, and present a young adult male with severe generalized chorea that showed a salutary response to vitamin B12 supplementation.
...
PMID:Involuntary movements due to vitamin B12 deficiency. 2485 3

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.
 ...
PMID:Methylmalonic Acidemia with Novel MUT Gene Mutations. 2915 24