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 16 year old man ingested 1 g potassium cyanide in 1969. A few days after an apparently full recovery he developed a severe dystonia syndrome. He had a positive response to an apomorphine test and showed improvement with levodopa treatment. A 21 year follow up showed minimal neurological sequelae; CT showed bilateral putaminal lucencies. Visual and brain stem auditory evoked potentials were normal.
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PMID:Delayed cyanide induced dystonia. 156 80

A 39-year-old man showed a combination of severe parkinsonism and progressive dystonia following attempted suicide with sodium cyanide. Computed tomography (CT) scan showed bilateral lucencies in the putamen and external globus pallidus. The topography of lesions on CT scan closely correlated with the pathological findings described in a previous report of cyanide-induced parkinsonism. This is the first reported case of cyanide intoxication with delayed-onset dystonia.
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PMID:Clinical and CT scan findings in a case of cyanide intoxication. 273 10

Progressive Parkinsonism, dystonia and apraxia of eye opening were seen after cyanide poisoning. CT scan and MRI showed lesions in the basal ganglia, cerebellum and cerebral cortex consistent with reported pathological findings.
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PMID:Dystonic-Parkinsonian syndrome after cyanide poisoning: clinical and MRI findings. 322 91

Two hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate-cysteine disulfideuria and sulfite oxidase deficiency, were described twenty years ago. Other examples of these disorders have been limited to about 5 of each in the world literature since then. Reasons for the apparent rarity of these conditions are discussed and the analytical procedures to identify them are reviewed. The detection of the first depends on the positive result of a cyanide-nitroprusside test followed by positive identification of the specific mixed disulfide. The enzyme mercaptopyruvate sulfur transferase has been shown to be deficient. In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional laboratory screening procedures. Laboratory diagnosis can be obtained by use of the Merckoquant sulfite test on a fresh urine sample. Quantitative thiosulfate and taurine measurements can also be made. Positive identification of the specific amino acid S-sulfo-L-cysteine should also be made. The enzyme sulfite oxidase is missing from such organs as liver, kidney and brain. This latter condition may also be associated with xanthinuria. For this combined disorder of sulfite oxidase and xanthine oxidase, a deficiency of a molybdenum-containing cofactor has been demonstrated.
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PMID:A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency. 388 41

A 27 year old female developed delayed onset of persistent generalized dystonia following a suicidal attempt with potassium cyanide. Cranial CT scan showed bilateral putaminal hypodensities which were also seen on MRI scans to be hypointense on T1 and hyperintense on T2 weighted images. Multimodality evoked potentials were normal. An improvement was noted with levodopa.
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PMID:Delayed onset generalised dystonia after cyanide poisoning. 758 51

A 35-year-old female ingested a lethal dose of potassium cyanide in a suicide attempt. She survived following antidote therapy and intensive care. Following artificial coma she presented with an agitative state for several days followed by akinetic mutism, buccofacial and ideomotoric aphasia. Severe rigid-akinetic syndrome, dysarthria, dysphagia and generalized dystonia developed weeks later. MRI revealed lesions in the caudate and lentiform nuclei, precentral cortex, and cerebellum. SPECT by [123-I] 2 beta-carbomethoxy-3-beta-(4-iodophenyl)-Tropan on two occasions revealed progressive loss of dopamine transporter suggestive of nigral neuronal apoptosis. Striatal and frontal hypometabolism and hypoperfusion were found by FDG-PET and HMPAO SPECT.
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PMID:Cyanide-induced akinetic rigid syndrome: clinical, MRI, FDG-PET, beta-CIT and HMPAO SPECT findings. 1573 73

The central nervous system's extrapyramidal system provides involuntary motor control to the muscles of the head, neck, and limbs. Toxicants that affect the extrapyramidal system are generally clinically characterized by impaired motor control, which is usually the result of basal ganglionic dysfunction. A variety of extrapyramidal syndromes are recognized in humans and include Parkinson's disease, secondary parkinsonism, other degenerative diseases of the basal ganglia, and clinical syndromes that result in dystonia, dyskinesia, essential tremor, and other forms of tremor and chorea. This chapter briefly reviews the anatomy of the extrapyramidal system and discusses several naturally occurring and experimental models that target the mammalian (nonhuman) extrapyramidal system. Topics discussed include extrapyramidal syndromes associated with antipsychotic drugs, carbon monoxide, reserpine, cyanide, rotenone, paraquat, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), and manganese. In most cases, animals are used as experimental models to improve our understanding of the toxicity and pathogenesis of these agents. Another agent discussed in this chapter, yellowstar thistle poisoning in horses, however, represents an important spontaneous cause of parkinsonism that naturally occurs in animals. The central focus of the chapter is on animal models, especially the concordance between clinical signs, neurochemical changes, and neuropathology between animals and people.
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PMID:Extrapyramidal system neurotoxicity: animal models. 2656 91

CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelinating neuropathy, respiratory compromise, profound intellectual disability and death within the first year. We report 7 additional patients ascertained through exome sequencing. We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant. Significant polyhydramnios occurred in 6/7 pregnancies. Severe respiratory compromise was seen in 6/7 (tracheostomy in 5). A complex neurological phenotype was seen in all patients who had marked brain hypomyelination/demyelination and profound developmental delay. Additional neurological findings included cranial nerve compromise: orobulbar dysfunction in 5/7, facial nerve weakness in 4/7 and vocal cord paresis in 5/7. Dystonia occurred in 2/7 patients and limb contractures in 5/7. All had severe gastroesophageal reflux, and a gastrostomy was required in 5/7. In contrast to most previous reports, only one patient died in the first year of life. Protein modelling was performed for all detected CNTNAP1 variants. We propose a genotype-phenotype correlation, whereby hypomorphic missense variants partially ameliorate the phenotype, prolonging survival. This study suggests that biallelic variants in CNTNAP1 cause a distinct recognisable syndrome, which is not caused by other genes associated with CHN. Neonates presenting with this phenotype will benefit from early genetic definition to inform clinical management and enable essential genetic counselling for their families.
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PMID:Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. 2951 23

Cyanide is one of the most rapidly acting poisons and accounts for many suicidal and homicidal deaths. Some natural products such as silk and wool can release cyanide when burned. Most patients who survive cyanide poisoning experience neurological sequelae. This report describes the case of a healthy 45-year-old Yemeni woman who was present during the burning of furniture in a closed space in her home. Upon admission, she displayed signs of inhalational injury, a black discoloration around her mouth and nostrils, and a first-degree burn on the left side of her neck. She experienced neuropsychiatric sequelae of cyanide poisoning, with deficits evolving over three months. Even after three months of treatment and continuous follow-up, she still showed signs of mild cognitive memory impairment along with word-finding difficulties and focal dystonia of her right hand. Full neurological and cognitive assessments are crucial to determine the neuropsychiatric sequelae of acute cyanide toxicity. Magnetic resonance imaging (MRI) can show the extent and structure of lesions in cyanide-sensitive regions of the brain, but it is not always diagnostic. The arterialization of venous blood gases may serve as an early clue to the diagnosis of cyanide poisoning.
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PMID:Long-Term Neuropsychiatric Sequelae in a Survivor of Cyanide Toxicity Patient With Arterialization. 3250 87