Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.
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Adolescent↗
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Results for “ATHETOSIS”
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Paroxysmal dystonic reflex choreoathetosis after minor closed head injury.
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Adult↗
Autosomal dominant paroxysmal kinesigenic choreoathetosis. An electroneurophysiological study.
A case of an 11-year-old boy with an autosomal dominant form of paroxysmal kinesigenic choreoathetosis is presented. Routine EEG, sleep EEG recording, and registration of visual evoked potentials and somatosensory evoked potentials were normal. EEG with videomonitoring and registration of event-related potentials, however, showed abnormalities, which are discussed in detail. Our data provide further arguments in support of the hypothesis that paroxysmal kinesigenic choreoathetosis is the expression of a dysbalance in the cortico-striopallidal-thalamic loop, and has an extrapyramidal genesis.
Athetosis↗
Choreoathetosis in multiple sclerosis.
Extrapyramidal symptoms are extremely rare in multiple sclerosis. We examined a patient with a ten year history of multiple sclerosis, who developed choreoathetoid movements of both upper extremities. To our knowledge this is the second case report of this association.
Adult↗
Unilateral involuntary movements of acute onset in the adult, nine case reports and an alternative pathophysiological hypothesis.
During the last decade nine adult patients were seen with an unilateral choreoathetosis or choreoballism of acute onset. In seven a hemodynamically significant lesion in a carotid artery has been detected; in four the artery was completely occluded. In one there was a subclavian steal syndrome, and in another the etiology remained unclear. Three patients had their dyskinesia at the same side as the carotid artery lesion, and four at the controlateral side.
Aged↗
An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant.
We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. Hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma. alpha-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. Cytogenetic analysis and radioresistant DNA synthesis was compatible with the diagnosis of ataxia-telagiectasia. This family probably represents a rare variant of ataxia-telangiectasia.
Adenocarcinoma↗
Experimental choreoathetosis produced by injection of a gamma-aminobutyric acid antagonist into the lentiform nucleus in the monkey.
An experiment is reported in which injections of the gamma-aminobutyric acid antagonist bicuculline into the lentiform nucleus of the monkey gave rise to a contralateral choreoathetoid dyskinesia. Evidence was obtained of functional heterogeneity between the dorsal and ventral lentiform nucleus, in that only injections into its ventral part gave rise to dyskinesia.
Animals↗
Regulation of purine biosynthesis in cultured human cells. I. Effects of orotic acid.
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Adolescent↗
Primate models of dyskinesia: the experimental approach to the study of basal ganglia-related involuntary movement disorders.
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Animals↗
Partial NADH dehydrogenase defect presenting as spastic cerebral palsy.
Mitochondrial myopathies are heterogeneous disorders. They may present at any age with a variable clinical course. We report a 6-year-old boy presenting as spastic cerebral palsy for 4 years, then athetotic movements and loss of milestones. He was eventually found to have NADH dehydrogenase deficiency.
Athetosis↗
Epilepsy or paroxysmal kinesigenic choreoathetosis?
Epileptic seizures induced by sudden movement and paroxysmal kinesigenic choreoathetosis (PKC) have often been confused in the past, owing to the close similarity of the attacks, the equally good response to anticonvulsants, and the frequent occurrence of epilepsy and PKC in the same family, or even in the same patient. The pathophysiology of PKC is still unclear and its relationship with epilepsy open to discussion. The sparing of consciousness and the lack of postictal phenomena are constant features of PKC, thus differentiating this syndrome from epilepsy. We report the case of an 8-year-old boy with frequent brief tonic attacks, without loss of consciousness, triggered by sudden movement. The neurologic examination, EEG and MRI did not help to differentiate between epilepsy and PKC. Only the occurrence of a longer seizure with clouding of consciousness and the recording of the postictal abnormalities on the EEG supported a diagnosis of reflex epilepsy induced by movement.
Anticonvulsants↗
Choreoathetoid disorder associated with amphetamine-like drugs.
Three cases of an acute choreoathetoid disorder that developed after the use of an amphetamine-like drug are reported. Because of the dramatic improvement in symptoms over a few hours in these cases, we recommend observation, supportive care, and the careful oral administration of activated charcoal.
Adult↗
Acquired paroxysmal movement disorders.
Acquired paroxysmal movement disorders are reported less frequently than the familial forms of paroxysmal dyskinesias. Three children, with the acquired form of the disorder which followed an early childhood encephalopathic event, are described. Three similarly affected children have been reported previously. Movement disorders developing after perinatal encephalopathy appear to be a distinct entity. Patients with this condition demonstrated clinical improvement following the initiation of antiepileptic medications.
Adolescent↗
A distinctive neurologic syndrome after induced profound hypothermia.
Four patients suffered a distinctive neurologic syndrome after undergoing profound hypothermia and complete circulatory arrest for congenital heart lesion repair. Symptom onset was delayed 24-120 hours postoperatively. The syndrome consists of choreoathetosis and oral-facial dyskinesias, hypotonia, affective changes, and pseudobulbar signs (CHAP). Precise anatomic localization is uncertain. Magnetic resonance imaging of 2 patients did not reveal basal ganglia lesions. Pathogenesis is obscure.
Athetosis↗
Regional cerebral glucose metabolism in clinical subtypes of cerebral palsy.
Twenty-three children with 4 clinical subtypes of cerebral palsy were studied using 2-deoxy-2(18F)fluoro-D-glucose (FDG) and positron emission tomography (PET). Subtypes included spastic quadriparesis (N = 6), spastic diplegia (N = 4), infantile hemiplegia (N = 8), and choreoathetosis (N = 5). FDG-PET images were correlated with magnetic resonance imaging or computed tomography. Although the location of glucose metabolic abnormalities corresponded, in general, to abnormalities of brain structure demonstrated by structural imaging studies, the distribution of metabolic impairment almost invariably extended beyond the region of anatomic involvement. The following observations in specific subtypes of cerebral palsy were determined with FDG-PET: (1) In spastic diplegic patients, PET revealed focal areas of cortical hypometabolism in the absence of apparent structural abnormality; (2) A relatively normal pattern of cortical metabolism was observed in most patients with choreoathetoid cerebral palsy, despite marked hypometabolism in the thalamus and lenticular nuclei; and (3) In patients with infantile hemiplegia, FDG-PET disclosed symmetric cerebellar glucose metabolism with absence of crossed cerebellar hypometabolism (diaschisis). This finding is contrary to the typical persistence of crossed cerebellar diaschisis in adult patients with acquired cerebral lesions and suggests metabolic recovery due to developmental plasticity. The possibility that FDG-PET may be clinically useful in identifying the cerebral palsy patient with potential learning handicap and in the study of functional recovery or sparing following brain injury should be explored further.
Adolescent↗
Movement disorders after status epilepticus and other brain injuries.
A retrospective medical record review was conducted of 173 consecutive children hospitalized for acquired brain injuries on a specialized pediatric rehabilitation service. The chart review identified children who developed movement disorders with acquired brain injuries: 8 with status epilepticus, 2 with trauma, and 1 with anoxia. Movement disorders were observed more frequently following status epilepticus (8 of 12) than following other causes of acquired brain injury (3 of 161; P = .0001). Four additional children had severe neurologic deficits following status epilepticus but did not develop movement disorders. The 11 patients who developed movement disorders had choreiform movements predominantly. Even though status epilepticus is a clinical phenomenon resulting from a variety of etiologies, the features of movement disorders in these children were strikingly similar. The pathophysiology of this complication is unknown.
Anticonvulsants↗
Choreoathetosis as an initial sign of relapsing of herpes simplex encephalitis.
Twelve children with type 1 herpes simplex encephalitis (3 with relapse, 9 without) have been monitored during the past 7 years. Ten of the children received intravenous infusion of acyclovir (30 mg/kg/day) for 10 days, 1 child who experienced relapse received 15 mg/kg/day, and another relapsed child received no antiviral agents until relapse. Relapse occurred 20-36 days after initial onset. All relapsed patients underwent another 10 days of acyclovir treatment (30 mg/kg/day). Choreoathetosis appeared as the initial sign of relapse followed by rapidly progressive unresponsiveness in all 3 relapsed patients: in 1 nonrelapsed patient choreoathetosis occurred during the recovery period. In these 4 patients involuntary movement was remitted within 3 months to 2 years. One patient with choreoathetosis died of measles pneumonia 4 months after onset of herpes simplex encephalitis and the surviving 3 were severely retarded. Although neuroimaging sparing of basal ganglia does not indicate structural and functional abnormalities, the disturbance of the neural connection among the basal ganglia and the cerebral cortex, which manifested severe damage over frontal, temporal, and parietal mantles on CT, may be the source of movement disorders in these patients. We conclude that choreoathetosis may be the first sign of relapse of herpes simplex encephalitis in children and may be an indicator of poor prognosis. The neuropathogenesis of choreoathetosis requires further investigation.
Acyclovir↗
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.
Adenosine Triphosphatases↗