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PubMed2001

Genetic factors in athetoid cerebral palsy.

Within the cerebral palsy syndromes, athetosis is most commonly causally associated with serious perinatal complications. Genetic factors are thought to play a lesser role, although the risk of recurrence in siblings has been suggested to be as high as 10%. We have conducted a clinical study of 22 subjects with a diagnosis of athetoid cerebral palsy and a review of the literature aiming to identify instances of familial recurrence of athetoid cerebral palsy. The birth history, family history, and previous investigations of subjects with athetoid cerebral palsy were studied and subjects were clinically examined for evidence of an underlying genetic etiology. Factors suggesting a genetic cause were specifically sought, such as advanced paternal age, progression of symptoms, and associated congenital abnormalities. No subjects in the study group had similarly affected relatives, and additional features suggesting a genetic cause were not observed. A literature search identified 16 instances of familial recurrence of athetoid cerebral palsy. Familial cases were typically associated with significant spasticity, microcephaly, intellectual disability, seizures, and a lack of history of birth asphyxia, and most could be explained by either autosomal-recessive or X-linked-recessive inheritance. The genetic contribution to athetoid cerebral palsy is small, with an overall risk of recurrence in siblings of about 1%. This risk is lower than previously suggested in the literature.

Adolescent↗

PubMed2005

Cerebellar injury in the extremely premature infant: newly recognized but relatively common outcome.

Severe injury to the cerebellum as a complication of extreme prematurity with extremely low birthweight was recently described in 13 children with the clinical diagnosis of cerebral palsy. We report another 10 cases of this syndrome. The clinical features include striking motor impairment and variable degrees of ataxia and athetosis or dystonia, which represent a distinct clinical type of cerebral palsy. Most are severely damaged, with cognitive, language, and motor delays. All are microcephalic, except one with hydrocephalus. Neuroimaging studies demonstrate the absence of major portions of the cerebellum involving both the inferior vermis and hemispheres. Most also have injury of a less severe nature in the cerebrum. This report indicates that this is not an uncommon outcome of extremely low birthweight infants, and we hope to encourage further investigations into the relative frequency and likely etiologies of the condition.

Adolescent↗

PubMed1987

Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex.

Two siblings with congenital granule cell hypoplasia of the cerebellum and hippocampus are reported. The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at the ages of 3 7/12 years and 5 10/12 years, respectively. Postmortem examinations in both cases revealed nearly complete absence of the granule cells of the cerebellum with relative preservation of the Purkinje cells. Also absent were the granule cells of the fascia dentata of the Ammon's horns of the hippocampus, without any detectable gliosis; this has not previously been reported. Twenty-three autopsy cases of granuloprival cerebellar hypoplasia are reviewed. The present cases illustrate a singularly unique disease process, comparable to the classical cerebellar hypoplasia experimentally induced by parvoviruses, and suggest a granule cell specific insult to the brain during the late second trimester.

Atrophy↗

PubMed1996

Baclofen in the treatment of cerebral palsy.

Baclofen, a gamma-aminobutyric acid agonist, acts at the spinal cord level to impede the release of excitatory neurotransmitters that cause spasticity. Oral baclofen improves cerebral spasticity mildly, but its activity is limited because of its poor lipid solubility. Cerebrospinal fluid baclofen levels after intrathecal administration are many times higher than those achieved after oral administration. Continuous intrathecal baclofen infusion has been used to treat cerebral spasticity in two patient groups: in older ambulatory children with inadequate underlying leg strength, and in patients with severe spasticity in both the upper and lower extremities. Responsiveness to intrathecal baclofen is confirmed by test injections before insertion of a programmable subcutaneous pump. Continuous intrathecal baclofen infusion dosages vary from 27 to 800 micrograms/day. Continuous intrathecal baclofen infusion reduces spasticity in the upper and lower extremities, and improves upper extremity function and activities of daily living but has no effect on athetosis in the dosages used to treat spasticity. Complications related to the intrathecal catheter occur in approximately 20% of patients, and infection requiring pump removal occurs in approximately 5%. Preliminary studies indicate that continuous intrathecal baclofen infusion alleviates some forms of generalized dystonia associated with cerebral palsy.

Administration, Oral↗

PubMed1995

Extrapyramidal manifestations complicating organophosphorus insecticide poisoning.

Six patients who developed extrapyramidal manifestations following poisoning with the organophosphorus (OP) insecticide fenthion are reported. The extrapyramidal features, in order of frequency, were dystonia, rest tremor, cog-wheel rigidity, and choreo-athetosis. The delay in onset of these signs, following poisoning, varied from 4 to 40 days, and they disappeared spontaneously in about 1 to 4 weeks in those who survived. The human extrapyramidal system is rich in cholinergic neurons and acetylcholinesterase (AChE). Inhibition of AChE by fenthion, which has ready access to central neurons on account of its lipid solubility, is postulated as the mechanism underlying the extrapyramidal manifestations.

Adult↗

PubMed1983

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical features in 34 patients were severe psychomotor retardation of early onset, ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvarium, and exotropia were present in about half the patients. The amplitude of EEG decreased progressively with increasing age. Life span appears to be normal; the age range of the patients was 3 to 63 years. Genealogic studies suggest an autosomal mode of inheritance. A thin-layer method is described for the detection of increased urinary free sialic acid excretion. The basic defect is so far unknown.

Adolescent↗

PubMed1990

Extrapyramidal involvement in Rett's syndrome.

Extrapyramidal dysfunction is poorly characterized in Rett's syndrome, a neurodegenerative disorder in girls. We studied the motor and behavioral findings in 32 Rett's syndrome patients, 21 months to 30 years old. In addition to the typical stereotyped movements and scoliosis, other motor disturbances included bruxism, sialorrhea, ocular deviations, parkinsonian findings, dystonia, myoclonus, and athetosis. The types of movement disorders seemed to be age-related, with the hyperkinetic disorders occurring in the younger patients and the bradykinetic disorders occurring more frequently in the older patients.

Adolescent↗

PubMed1999

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

OBJECTIVES: To elucidate the phenotype in aromatic L-amino acid decarboxylase (AADC) deficiency, a rare autosomal recessive disorder of neurotransmitter synthesis, and report preliminary treatment observations with directed therapy of the associated neurotransmitter deficiencies. BACKGROUND: AADC is a required enzyme in dopamine, norepinephrine, epinephrine, and serotonin biosynthesis. Five patients have been previously reported. Responses to treatment interventions in these patients have been mixed. METHODS: Clinical and biochemical evaluation and therapeutic trials were performed in two children over a 26-month period. RESULTS: Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia, and limb rigidity. Catecholamine deficiency was manifest by ptosis, nasal congestion, paroxysmal diaphoresis, temperature instability, and blood pressure lability. Abnormal sleep, feeding difficulties, and esophageal reflux were typical. Significant therapeutic benefit was observed in one child with a combination of pergolide, trihexyphenidyl, and tranylcypromine. Preliminary trials using serotonin receptor agonists or reuptake inhibitors resulted in adverse effects. CONCLUSIONS: The movement disorder in AADC deficiency, particularly the characteristic eye movement abnormalities, should facilitate the identification of patients with this rare but possibly underrecognized disorder. Directed therapy of the underlying dopamine and norepinephrine deficiency may be beneficial in some cases.

Amino Acid Metabolism, Inborn Errors↗

PubMed2003

The MPTP-treated primate as a model of motor complications in PD: primate model of motor complications.

Motor complications are a common cause of treatment failure in Parkinson's disease (PD). Although the underlying mechanisms remain obscure, research with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated primates may facilitate their investigation. Repeated administration of L-dopa to MPTP-treated primates results in a loss of drug efficacy ("wearing off") and periods of immobility ("on-off"). Immediately after each dose of L-dopa, animals show an initial worsening of motor performance ("beginning-of-dose deterioration") and, at the end of action of each dose, they exhibit a decline to levels of disability below those seen at baseline ("rebound worsening"). Dyskinesia (chorea, dystonia, athetosis) appears rapidly in MPTP-treated primates given L-dopa. The greater the degree of nigral denervation, the less exposure to L-dopa that is required to induce dyskinesia. The onset and intensity of dyskinesia are related to the dose and frequency of L-dopa administration. Increasing brain exposure to L-dopa increases the severity and intensity of involuntary movements. In contrast, long-acting dopamine agonists (DAs) induce a far lower incidence of dyskinesia, and continuous dopaminergic stimulation may provide a means of avoiding its onset. Recent data from MPTP-treated primates suggest that switching from L-dopa to a long-acting DA may reverse the priming process associated with induction of dyskinesia. Responses of MPTP-treated primates have proved to be highly predictive of antiparkinsonian activities of drugs in humans and their ability to induce dyskinesia, but they may also have utility in evaluating the mechanisms that underlie a range of long-term motor complications affecting patients with PD.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine↗

PubMed1981

[Idiopathic neurologic diseases in dogs and cats in Japan from the viewpoint of animal models of human disease (author's transl)].

This study was intended to demonstrate the neurological characteristics of idiopathic neurologic diseases of dogs and cats as a material for evaluating them as animal models for human diseases. A hundred and nineteen animals selected for this study from among outpatients with various neurological disorders presented to the Veterinary Hospital of University of Tokyo were studied mainly by the neurological examination with assistant methods of electroencephalography and electromyography. Hydrocephalus and vestibular diseases were highest in incidence in dogs, followed in order by encephalitis and epilepsy. Choleiform movements or other abnormal movements such as athetosis and hemiballism that are seen in diseases of the extrapyramidal system of man were not observed in dogs. Cerebellar degenerative disease showed the highest incidence in cats, which is believed to occur by transplacental infection of panleukopenia virus. Intervertebral disk disorders, the most common neurologic disease in the dog, usually occurred in the thoracic, unlike in man, and lumbar segments, not only causing pain but precipitating paresis or paralysis of the legs or of the trunk.

Animals↗

PubMed2005

Clinical (video) findings and cerebrospinal fluid neurotransmitters in 2 children with severe chronic bilirubin encephalopathy, including a former preterm infant without marked hyperbilirubinemia VIDEO.

Chronic bilirubin encephalopathy, characterized clinically by extrapyramidal movement abnormalities, vertical gaze abnormalities, and hearing loss, results from neuronal injury after marked hyperbilirubinemia in term and preterm infants. In premature infants, bilirubin staining of specific brain structures has been described at autopsy after only moderate hyperbilirubinemia, but classic chronic bilirubin encephalopathy without marked hyperbilirubinemia has been reported only rarely. We report a case of a 7-year-old, former 29-weeks' gestation, gravely ill premature infant with a peak bilirubin level of 13.3 mg/dL in the neonatal period. We compare this case with a 12-year-old, former term infant with a peak bilirubin level of 49.4 mg/dL on day 10 of life. Both children have dystonia, athetosis, upward gaze palsy, and sensorineural hearing loss, with MRIs showing characteristic abnormal signal in the globus pallidus. We add previously unreported cerebrospinal fluid neurotransmitter levels that show a mild decrease in the dopamine metabolite homovanillic acid in the former premature infant only.

Child↗

PubMed2005

[Paralytic hip dislocation in cerebral palsy--soft tissue surgical procedures].

Results of a combination of soft tissue procedures performed for the first time in treating paralytic dislocation of the hip in cerebral palsy are presented. All hip flexors and adductors release, along with possible transposition or elongation of knee flexors on the side of the dislocation (if knee contracture exceeded 20) were peformed. 75 hips in 57 patients were operated on. 54 patients were analyzed. The average age of the patients was 6.6 years, the average follow-up was 7 years. Excellent result was achieved in 33patients (61%), good in 10 (18,6%), fair in 4 (7,4%) poor in 7 patients (13%). Poor results were registered in patients over 10 years of age and in patients with athetosis. Results were assessed according to clinical finding, radiological finding (migrational percentage) and the ability of patients to walk. When based on radiological findings only, excellent results were achieved in 63 hips (84%). This combination of soft-tissue procedures which includes all muscles that take part in the dislocation proved to be very successful in achieving reposition. It can be recommended to patients suffering from the spastic form of cerebral palsy up to 10 years of age.

Cerebral Palsy↗

PubMedDate not supplied

[Drug-induced tremor and acute movement disorders].

The main clinical characteristics and aetiology of drug-induced tremor and acute movement disorders (myoclonus, chorea, athetosis, dyskinesia, dystonia, tics) are reviewed and discussed in this article. Tremor is the most frequent drug-induced acute movement disorder. Drug intake (and, initially, true or 'hidden' neuroleptic or psychoactive drugs) should be suspected as the cause of every abnormal movement. Drug-induced acute movement disorders usually disappear spontaneously after withdrawal of the suspected drug without any drug treatment. Drug-induced tremor and movement disorders are often poorly described in the Summary of Products Characteristics (SPC).

Dyskinesia, Drug-Induced↗

PubMed2006

Intrathecal baclofen therapy in children.

Since its introduction in the late 1980s, intrathecal baclofen (ITB) therapy has become the standard treatment for severe generalized spasticity and dystonia in children. Treatment with ITB decreases spasticity in the upper and lower extremities and has been associated with improved function and decreased musculoskeletal contractures. In addition, ITB decreases generalized secondary dystonia and has been associated with improved comfort and ease of care in approximately 85% and with improved function in approximately 33% of patients. Continued effectiveness of ITB in treating spasticity has been observed for up to 17 years, and its effectiveness in treating dystonia has been observed for up to 10 years. Although ITB therapy is frequently associated with complications such as infections, catheter malfunctions, and cerebrospinal fluid leaks, the benefits of therapy appear to outweigh the risks. Additional investigation is needed to determine the effects of ITB on other movement disorders such as athetosis and chorea.

Baclofen↗

PubMed2001

Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report.

Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism caused by a deficiency of the mitochondrial enzyme glutaryl-Co enzyme A dehydrogenase. GA-1 is not uncommon amongst Caucasians but to the best of our knowledge, it has previously not been reported in black African children. We present a case of GA-1 in a black South African boy who was referred to hospital at the age of five years and ten 10 months with dyskinesia and dystonia accompanied by chorea and athetosis. Radiological examination revealed enlarged basal cisterns with bilateral fluid collection around the sylvian fissures suggestive of GA-1. Analysis of urine showed raised levels of glutaric acid at 520 micromol/mmol creatinine (normal <2.0), 3-hydroxyglutaric acid at 113 micromol/mmol creatinine (normal <3.0) and a low blood carnitine level of 31.5 micromol/l (normal 35-84). A definitive diagnosis was reached through DNA analysis which revealed homozygosity for an A293T mutation in the glutaryl-Co-enzyme A dehydrogenase (GCDH) gene.

Amino Acid Metabolism, Inborn Errors↗

PubMed1996

Neck and brain transitory vascular compression causing neurological complications. Results of surgical treatment on 1,300 patients.

In this brief article we describe the role of compression of the vertebral subclavian arteries, internal mammary, internal carotid arteries, brachial plexus and coiling and kinking of the vertebral and basilar arteries, the faulty irrigation of blood supply and oxygen of the cerebellum and basal ganglia of the brain. Among the effects are: a decrease in the secretion of dopamine at the level of the putamen, which produces the symptoms of Parkinson's disease, and chorea due to chronic transitory faulty blood supply and oxygen to the caudate nucleus, ballism by hypoxia at the level of subthalamic nuclei and athetosis in the lenticular nucleus. This compression is caused by the anterior scalene muscles and the cervical ribs at the level of the vertebrae C6-C7; by the sternocleidomastoid at the level of the cervical atlas; and coiling and kinking of the vertebral, basilar and the internal carotid arteries. The decreased blood supply to the cerebellum and basal ganglia is the cause of the Cerebellar Thoracic Outlet Syndrome (CTOS) and its neurological complications, among which are ipsilateral paralysis, Parkinson disease and others. We are presently engaged in several studies to widen our understanding of this phenomenon.

Aged↗

PubMed1976

[Early treatment of cerebral movement disorders: findings among 50 school children].

It is difficult to assess objectively the effectiveness of treating children with cerebral palsy during the first year of life. 50 pupils with cerebral palsy were selected for handicap and intelligence and carefully examined. All children were treated with the neurodevelopmental technique of BOBATH, 22 of them within the first year of life, 28 thereafter. The examination in school age showed differences between the two groups. When treatment is commenced before nine months of age, children with spastic diplegia resulting from premature birth are unlikely to require special schooling for reasons of their physical handicap. After early treatment, patients with severe neuromuscular dysfunction in early life frequently display disturbances of a predominantly ataxic nature when reaching school age. Spasticity appears to respond well and athetosis less favorably to early treatment. More severe brain damage in the early treated children is possibly indicated by the higher incidence of epilepsy. Pupils who were treated early show significantly fewer behavioural disturbances, with the exception of cases where symbiotic neurosis in the mother is present. This is important for the development of the personality and the individual capacity of integration.

Cerebral Palsy↗

PubMedDate not supplied

Brace treatment in neuromuscular spine deformity.

We reviewed 90 consecutive patients with various neuromuscular diseases and a progressive spine deformity treated with a prefabricated Boston-type underarm corrective brace. Of these, 38 patients had spastic tetraplegia; seven, syndrome-related muscular hypertonia; 24, muscular hypotonia; and 21, myelomeningocele. The mean age at the treatment start was 9.2 years (range, 1.4-17.7 years). Twenty-four were ambulating and 66 wheelchair-bound. Hypotonia was the dominant type of muscle involvement in 49, spasticity in 28, and athetosis in 13 patients. The mean pretreatment Cobb angle was 47 degrees, with a range from 23 to 95 degrees. The mean brace-induced Cobb-angle correction was 60%, thus well comparable to that in idiopathic scoliosis. However, this did not predict favorable treatment results. At the follow-up, on average 3.1 years (range, 1-5.5 years) after weaning from the brace, the brace treatment was successful in 23 patients. Successful was defined as <10 degrees curve progression during the observation time and a good brace compliance. Forty-one patients discontinued the brace treatment, and 19 progressed despite adequate brace wear. Five patients are still in treatment, and two have died. Successful treatment was seen in ambulating patients with muscle hypotonia and short thoracolumbar/lumbar curves measuring <40 degrees as well as in nonambulating patients with spastic short lumbar curves. These types of neuromuscular scoliosis may be the only ones to respond to brace treatment. In other cases, the brace treatment cannot be expected to have a lasting corrective effect although it can be used as sitting support.

Adolescent↗