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)

We treated a patient who developed transient multifocal encephalopathy with extrapyramidal symptoms (oromandibular dystonia, oculogyric crisis, and limb dystonia) in temporal proximity to ondansetron administration on emergence from general anesthesia. No other medications known to cause extrapyramidal reactions were administered. Although these symptoms resolved fully, the presentation was dramatic and resembled the symptoms of structural brain injury. Ondansetron is used frequently as an antiemetic agent in many clinical settings and is not limited to surgical patients. Therefore, the entire medical community should be cognizant of this potential adverse reaction.
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PMID:Ondansetron-induced multifocal encephalopathy. 1296 70

The central goal of the investigation was to study Solcoseryl (SolcoSwitzerland) therapeutic efficacy for patients suffering from early or chronic cerebrovascular diseases complicated with different forms of paroxysms. 29 patients were examined. (14 of them were with vegetovascular dystonia, 7 with discirculatory encephalopathy of degree of 1 and 8 with discirculatory encephalopathy of degree of II). The authors revealed Solcoseryl to be positive in decreasing incidence and duration of vegetovascular fits, complaints, pathologic symptoms.
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PMID:[Solcoseryl--new preparation for the pathogenetic treatment of patients with paroxysmal forms of cerebrovascular pathology]. 1472 51

Leber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)-encoded ND6 gene. This mutation has been reported in families presenting with LHON alone, LHON plus dystonia, or pediatric dystonia with typical age of onset less than 5 years. The mutation changes a moderately conserved alanine to a valine at amino acid residue 72, which is within the most evolutionarily conserved region of the ND6 protein. Pediatric onset disease is associated with basal ganglia dysfunction, spasticity, and encephalopathy. We report a family with G14459A mtDNA mutation and a broad spectrum of clinical manifestation. The proband was a 3-year-old girl with anarthria, dystonia, spasticity, and mild encephalopathy. MRI of the brain demonstrated bilateral, symmetric basal ganglia lucencies associated with cerebral and systemic lactic acidosis. Her maternal first cousin presented with a new onset limp and mild hemiparesis along with similar MRI findings with a much milder phenotype. Additional investigation of the family members with the mutation has revealed both asymptomatic and symptomatic individuals with variable clinical and laboratory features of mitochondrial disease. This study re-emphasizes the heterogeneous clinical manifestation of homoplasmic G14459A mtDNA mutation even within the same family, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease. Published 2003 Wiley-Liss, Inc.
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PMID:Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. 1473 85

Wilson's disease is a genetic disorder of copper metabolism with a hepatic or neurologic presentation. A hepatic presentation is more common in young children. Neurologic Wilson's disease often manifests as a movement disorder with dystonia, tremor, and dysarthria. Psychiatric or behavioral symptoms can also be a presenting feature of Wilson's disease. We describe an atypical neurologic presentation in a prepubertal child with minimal hepatic involvement; in which transient hemiparesis and encephalopathy dominated her initial neurologic presentation. Brain magnetic resonance imaging revealed extensive cortical and subcortical signal change, in addition to the classical basal ganglia signal abnormality observed in Wilson's disease. She was treated with oral tetrathiomolybdate anticopper therapy, followed by zinc maintenance. Her clinical status and brain imaging improved considerably at 1 year after treatment initiation. Neurologic Wilson's disease may have diverse presentations, and should be considered in children who present with cortical features and signal change on magnetic resonance imaging.
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PMID:Atypical childhood Wilson's disease. 1473 53

In order to understand the correlation between the clinical and neuroimaging manifestations and the long-term prognosis in delayed encephalopathy after carbon monoxide (CO) intoxication, we retrospectively reviewed 12 patients who had delayed encephalopathy from 89 patients with CO intoxication. There were 8 men and 4 women, with a mean age of 54.4 +/- 17.2 years (range: 11-79 years). All patients had prominent consciousness disturbance in the acute stage and received high flow of O2 or hyperbaric oxygen therapy. All of them regained consciousness within 1-7 days, but subsequently developed delayed encephalopathy. The delayed encephalopathy occurred from 14 to 45 days after recovery from the acute stage. The clinical manifestations included cognitive impairment, akinetic mutism, sphincter incontinence, gait ataxia and extrapyramidal syndromes such as chorea, dystonia, and parkinsonism. Brain MRI revealed multiple lesions in the subcortical white matter and basal ganglia, mostly in the globus pallidus, and to a lesser degree in the putamen, and caudate. In the follow-up period, sphincter incontinence first disappeared. The cognitive impairment improved greatly in the following few months, but the involuntary movements were improved only slightly. Some patients had persistent neurological sequelae, such as dystonia. Similary, the follow-up brain MRI showed a steady improvement. In conclusion, the delayed encephalopathy usually developed 2 weeks to 1.5 months after the acute phase of CO intoxication. Globus pallidus and subcortical white matter were commonly involved. The neurological manifestations improved and correlated roughly with the neuroimaging changes.
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PMID:Delayed encephalopathy after carbon monoxide intoxication--long-term prognosis and correlation of clinical manifestations and neuroimages. 1547 74

In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl-CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance of glutamatergic and GABAergic neurotransmission induced by the accumulating organic acids 3-hydroxyglutaric acid (3-OH-GA) and to a lesser extent glutaric acid (GA). Stereotaxic administration of 3-OH-GA and GA into the rat striatum have confirmed these results, but may not truly represent the effect of chronic exposure to these compounds. In an attempt to better understand the pathophysiology of GCDH deficiency in vivo , two animal models have been utilized. A mouse that lacks GCDH activity in all tissues was generated by gene targeting in embryonic stem cells. These animals develop the characteristic biochemical phenotype of the human disease. Pathologically, these mice have a diffuse spongiform myelinopathy similar to that in human patients; however, there is no evidence for acute striatal damage or sensitivity to acute encephalopathy induced by catabolism or inflammatory cytokines. A naturally occurring animal model, the fruit-eating bat Rousettus aegypticus, lacks hepatic and renal GCDH activity, but retains cerebral enzyme activity. Like the mouse, these bats develop the characteristic biochemical phenotype of glutaryl-CoA dehydrogenase deficiency, but lack overt neurological symptoms such as dystonia. It is not known whether they also develop the spongiform myelinopathy seen in the Gcdh-deficient mice. Otherwise, these constellations would suggest that cerebral GCDH deficiency is responsible for the development of neuronal damage. The lack of striatal damage in these two rodent models may also be related to species differences. However, they also highlight our lack of a comprehensive understanding of additional factors that might modulate the susceptibiliy of neurons to accumulating 3-OH-GA and GA in GCDH deficiency. Unravelling these mechanisms may be the key to understanding the pathophysiology of this unique disease and to the development of neuroprotective strategies.
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PMID:Animal models for glutaryl-CoA dehydrogenase deficiency. 1550 86

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.
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PMID:Secondary tics and tourettism. 1596 46

Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis, and eventual death, if left untreated. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). On brain magnetic resonance imaging examination, patients display central bilateral necrosis in the head of the caudate, with complete or partial involvement of the putamen. All patients diagnosed to date are of Saudi, Syrian, or Yemeni ancestry, and all have consanguineous parents. Using linkage analysis in four families, we mapped the genetic defect near marker D2S2158 in 2q36.3 (LOD=5.9; theta=0.0) to a minimum candidate region (approximately 2 Mb) between D2S2354 and D2S1256, on the basis of complete homozygosity. In this segment, each family displayed one of two different missense mutations that altered the coding sequence of SLC19A3, the gene for a transporter related to the reduced-folate (encoded by SLC19A1) and thiamin (encoded by SLC19A2) transporters.
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PMID:Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 1587 Nov 39

Progressive multifocal leukoencephalopathy (PML) has been described in adult immunocompromised patients and has a progressive downhill course. Though dementia and motor disturbances have been described, intractable dystonia is a very unusual manifestation. In children, PML is very rare and often misdiagnosed as other central nervous system (CNS) encephalopathy. No definitive treatment is available.
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PMID:Progressive multifocal leukoencephalopathy (PML) presenting as intractable dystonia in an HIV-infected child. 1592 49

Tyrosine 3-monooxygenase (tyrosine hydroxylase, TH) catalyzes the initial and rate-limiting step in the catecholamine biosynthesis. Alteration in TH activity is involved in the pathogenesis of certain disorders derived from catecholaminergic dysfunction. In the present review, we focus on recent advances in molecular genetic study of TH function and inherited diseases. Knockout mice lacking TH gene show severe catecholamine depletion and perinatal lethality. Mice heterozygous for the TH mutation exhibit defects in some neuropsychological functions. Dopamine-deficient mice impair motor control and operant learning during postnatal development. In addition, some point mutations in the human TH gene underlie the inherited diseases, including the recessive form of L-DOPA-responsive dystonia, parkinsonism in infancy, or progressive encephalopathy. These mutations indeed appear to reduce TH activity or influence expression of TH protein. Advances in molecular genetic studies provide a deeper understanding of the relationship between the alteration in TH activity and the pathology of catecholaminergic systems.
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PMID:Molecular genetics of tyrosine 3-monooxygenase and inherited diseases. 1610 53


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