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Hyperkinetic movement disorder in an 11-year-old child treated with bilateral pallidal stimulators.

Pallidal stimulation is widely used in the treatment of movement disorder in adults but is less well reported in the treatment of dystonia in children. Despite inconsistent results in the past, its use in dystonia in Parkinson's disease is again attracting interest with promising results. Bilateral as well as unilateral pallidotomies have been performed and are felt to be required in some cases of dystonia. Use of depth electrodes to provide long-term electrical stimulation to pallidum and other basal ganglia structures has recently become more widespread. This technique is felt to have a lower morbidity, especially in bilateral procedures. Here we present the case of an 11-year-old boy with severe hyperkinetic movement disorder who showed sustained improvement after bilateral pallidal stimulation implantation.

Cerebral Palsy↗

Deep brain stimulation for idiopathic or secondary movement disorders.

Deep brain stimulation has gained increasing interest in the treatment of movement disorders. Presenting our clinical series of 179 patients operated upon since 1999, the indications, risks and benefits for the patients are discussed in order to further improve the techniques and their applications.

Deep Brain Stimulation↗

[Movement disorders induced by drugs: experience at a pharmaco-vigilance center over five years].

The present retrospective study investigates the characteristics of drug-induced movement disorders notified to a Regional Drug Surveillance Centre. Among 4000 general side effects spontaneously reported to the Centre between 1989 and 1993, 122 were drug-induced movement disorders. Drug-induced parkinsonism (40 per cent) was mainly due to antidopaminergic agents (neuroleptics but also antiemetics or calcium channel blockers). Acute dyskinesia and dystonia (25 per cent) as well as tardive dyskinesia (14 per cent) involved mainly neuroleptics or antiemetics. Non-parkinsonian tremors (11 per cent) were related mostly to tricyclic antidepressants. Involvement of other less often suspected drugs (non-imipramine antidepressants, cardiac or hypolipidaemic drugs, etc) is discussed.

Adult↗

Hemorrhagic complication of stereotactic surgery in patients with movement disorders.

OBJECT: Small, asymptomatic hemorrhages are easier to detect during stereotactic surgery when magnetic resonance (MR) imaging is used for targeting rather than when traditional approaches, such as ventriculography, are performed with contrast material. In the present study the authors examined the actual incidence of intraoperative hemorrhages in patients with movement disorders who had undergone MR imaging-targeted surgery, microelectrode recording (MER)-guided implantation of deep brain stimulation (DBS) electrodes, or radiofrequency-induced coagulation surgery performed. METHODS: Ninety-six consecutive patients underwent a total of 116 stereotactic operations for movement disorders (57 operations for radiofrequency-induced coagulation and 59 for DBS electrode implantation) between January 1998 and November 2002. The authors investigated the correlation between hemorrhages and other factors including the location of the hemorrhage and the type of surgery performed. Postoperative computerized tomography scans demonstrated the occurrence of intraoperative hemorrhages at 12 locations during 11 procedures (9.5% of all procedures). Nine hemorrhages occurred during 57 coagulation operations (15.8%). Within this group, the frequency of hemorrhages was highest during thalamotomy (five [21.7%] of 23 procedures) and lower during pallidotomy (four [11.8%] of 34 procedures). In contrast, only two intraventricular hemorrhages developed during 59 operations in which DBS electrodes were implanted (3.4%). In no case was hemorrhage detected in the main DBS target, that is, the subthalamic nucleus. CONCLUSIONS: When small, asymptomatic hemorrhages were included in the estimation, the actual rate of hemorrhage was higher than that previously reported. Judging from the incidence of hemorrhage during coagulation and DBS surgeries, the authors suggest that the heat induced by coagulation may play a larger role than microelectrode penetration in the development of hemorrhage.

Adolescent↗

Hypokinetic movement disorders.

Hypokinesis is the term used to refer to slow or reduced movement. Hypokinetic movement disorders are often referred to as parkinsonisms because they display clinical features of idiopathic Parkinson's disease (IPD). As a result, distinguishing other parkinsonian syndromes from IPD is difficult, and it is often not until post mortem that a misdiagnosis is realized. Conditions displaying features of parkinsonism are extensive. The more commonly encountered are IPD, multiple system atrophy, and progressive supranuclear palsy.

Humans↗

Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.

We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10 males and 8 females) with FDFM. The disorder has an early childhood or adolescent onset. The involuntary movements are paroxysmal at early ages, increase in frequency and severity, and may become constant in the third decade. Thereafter, there is no further deterioration, and there may even be improvement in old age. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in lifespan. A candidate gene and haplotype analysis was performed in 9 affected and 3 unaffected members from 3 generations of this family using primers for polymorphic loci closely flanking or within genes of interest. We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine. Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.

Adolescent↗

Study of movement disorders and brain iron by MR.

Heavily T2-weighted high-field MR images provide a unique opportunity for the evaluation of the extrapyramidal motor system. The images are affected by the presence of small amounts of naturally occurring paramagnetic substances--principally iron--that delineate the neostriatum (caudate and putamen), globus pallidus, red nucleus, substantia nigra, and dentate nucleus, primarily by a decrease in signal secondary to the T2* effect. Movement disorders are associated with either increased or decreased signal or both in these structures, depending on the pathologic process. In the initial evaluation of 113 patients with a variety of movement disorders, good correlation of imaging abnormalities can be made with a simplified schema of the extrapyramidal pathways and a system of classification of abnormal movements, parkinsonism/tremor, dystonia, chorea, myoclonus, and hemiballismus. Parkinsonisms are characterized by abnormalities of the cortico-ponto-cerebello-dentato-rubro-thalamo-cortico-spinal tract or the nigrostriatal tract. Dystonias are characterized by abnormalities of the neostriatum predominantly affecting the putamen. Choreas are also characterized by abnormalities of the neostriatum but predominantly affecting the caudate nucleus. Hemiballismus is characterized by lesions affecting the subthalamic nucleus or associated pathway.

Adult↗

Cannabis in movement disorders.

Central cannabinoid receptors are densely located in the output nuclei of the basal ganglia (globus pallidus, substantia nigra pars reticulata), suggesting their involvement in the regulation of motor activity. Furthermore, there is evidence that endogenous cannabinoid transmission plays a role in the manipulation of other transmitter systems within the basal ganglia by increasing GABAergic transmission, inhibiting glutamate release and affecting dopaminergic uptake. Most hyperkinetic and hypokinetic movement disorders are caused by a dysfunction of basal ganglia-thalamo-cortical loops. It has been suggested that an endogenous cannabinoid tone participates in the control of movements and, therefore, the central cannabinoid system might play a role in the pathophysiology of these diseases. During the last years in humans a limited number of clinical trials demonstrated that cannabinoids might be useful in the treatment of movement disorders. Despite the lack of controlled studies there is evidence that cannabinoids are of therapeutic value in the treatment of tics in Tourette syndrome, the reduction of levodopa-induced dyskinesia in Parkinson s disease and some forms of tremor and dystonia. It can be speculated that cannabinoid antagonists might be useful in the treatment of chorea in Huntington s disease and hypokinetic parkinsonian syndromes.

Basal Ganglia↗

Thalamotomy for movement disorders.

VL thalamotomy is an excellent choice for the control of tremor in patients with a wide variety of disorders. Parkinson's disease and essential tremor are the best indications, but other disorders also respond. Improvement of bradykinesia and rigidity in Parkinson's disease is achievable but is not as dramatic as hyperkinetic symptoms. Morbidity from thalamotomy is most common with bilateral lesions, and innovative therapies such as thalamic stimulation may have a role when a second contralateral procedure is needed. Thalamotomy is an effective procedure that has probably been underused over the past two decades. With renewed interest in stereotactic neurosurgery, improved imaging, and well-established target localization techniques, the procedure is effective with a high degree of safety. The growing enthusiasm for brain grafting has also stimulated interest in the surgical treatment of movement disorders, and clearly this technique will evolve and progress as well. In the author's opinion, the results of ablative surgery still far exceed those of tissue implantation. For a select group of indications, thalamotomy should be considered in the forefront of options for patients with movement disorders.

Humans↗

Thalamic stimulation for control of movement disorders.

Chronic recurrent thalamic stimulation has been effective in alleviating a variety of movement disorders. In contrast to thalamic lesions, it is preferred for the treatment of intractable motor disorders in low-risk elderly patients and patients with diffuse brain lesions secondary to trauma. Abnormal diencephalic electrical discharges have been observed and thought to be associated, in some way, with either generating or sustaining the movement abnormalities. The beneficial effects are ascribed to an electrophysiologic functional ablation of the discharging systems. This interpretation is based on the observation that the diencephalic discharges are attenuated by the applied stimulation and that the beneficial effects are reversible even after several months of applied therapeutic stimulation.

Adult↗

Ancient descriptions of movement disorders: Cathedral el Burgo de Osma (Soria, Spain).

El Burgo de Osma (Soria, Spain) offers one of the best preserved medieval structures in Spain. The interior of the building conserves abundant samples of Romanesque art, and the tomb in polychromatic stone of the founder, San Pedro de Osma. We have classified those pieces of art that could represent descriptions of movement disorders. In the main façade of the Cathedral, several statues representing prophets can be seen one of them is clearly different to the rest. This statue represents a man with abnormal cervical posture characterized by right rotation, head tilt and elevation of right shoulder. The tomb includes several statues representing fragments of the life of San Pedro de Osma. Some of these figures show movement disorders. First, a woman with a baby in her arms who has marked head tilt to the left. Second a peasant without hands, perhaps amputated, this man has a head tilt to the right. We suggest that in the latter case ergotism can explain both manifestations: peripheral vascular disease leading to amputation, and cervical dystonia.Finally, a statue of polychromatic wood represents a priest with stooped posture, half open mouth, staring expression and a very notorious anterocollis. The author probably depicted a man with parkinsonism.

History, Ancient↗

Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients.

The presence of acanthocytosis in peripheral blood smears remains the hallmark of the clinical diagnosis of most neuroacanthocytosis syndromes, such as chorea-acanthocytosis (ChAc) and McLeod syndrome. Genetic analyses and/or specific laboratory tests are available only for a minority of these disorders. Testing for acanthocytosis is hampered by the lack of data on normal amounts of acanthocytes assessed by a standardized method. We report a prospective reader-blinded study designed to establish control values for abnormally shaped erythrocytes in healthy volunteers and patients with movement disorders (MDs) using light microscopic assessment of erythrocyte morphology in standard EDTA and isotonically diluted blood samples. We investigated a total of 100 patients fulfilling clinical criteria of specific MDs, 31 patients with MDs not matching any clinical criteria, and 37 healthy controls. In patients with diagnosed MDs and healthy controls, acanthocytes in dry blood smears were significantly more frequent following isotonic dilution compared with standard EDTA blood. In unfixed wet blood preparations of both EDTA blood and isotonically diluted blood, acanthocyte levels were significantly higher than in standard dry blood smear preparations. There were no statistical differences of acanthocyte levels in all test conditions between diagnosed MDs and healthy volunteers. There was no significant correlation of acanthocyte levels in all blood samples and preparations with age, sex or diagnosis. Thus, normal values were defined as the 99th percentile of combined results of the two groups of volunteers. Diluted blood combined with wet blood preparation showed high specificity (0.98) and the highest sensitivity of all test procedures (all genetically confirmed ChAc patients were detected). The reported method is cheap, readily available, and provides high specificity and sensitivity in respect to clinically relevant acanthocytosis. The use of isotonically diluted blood samples combined with unfixed wet blood preparation with a normal range of <6.3% of total erythrocytes is recommended to search for significant acanthocytosis in movement disorders.

Acanthocytes↗

Creutzfeldt-Jakob's disease presenting with ataxia and a movement disorder.

We describe a 62-year-old patient who presented with ataxia and dystonia with mild dementia and was shown at autopsy to have Creutzfeldt-Jakob's disease. Movement disorders may be the presenting feature of Creutzfeldt-Jakob's disease, and this entity should be considered in the differential diagnosis of an otherwise obscure movement disorder even when the typical electroencephalographic pattern is absent.

Brain↗

Assessment of association of D3 dopamine receptor MscI polymorphism with schizophrenia: analysis of symptom ratings, family history, age at onset, and movement disorders.

Several studies have reported an association between schizophrenia and homozygosity for the MscI restriction site in exon 1 of the D3 dopamine receptor gene, but other studies have failed to find this association. Recent reports have suggested that the association is most salient in male patients with a family history of schizophrenia. We examined this restriction site in a group of schizophrenic patients (n = 84) and in normal controls (n = 77). Patients were subdivided according to demographic and clinical features, particular attention being paid to movement disorders. No significant difference in allelic or genotypic distribution was seen between the two groups. No association was seen between homozygosity and a positive family history, age at onset of illness, clinical subtype, negative symptom score, or movement disorder scores.

Chi-Square Distribution↗

[Movement disorders and motor activity during sleep].

OBJECTIVE: To describe different types of motor activity and movement disorder which occur during sleep in relation to episodes of arousal and sleep disorder. DEVELOPMENT: During sleep, normal motor activity should be distinguished from paroxystic episodes: parasomnias; abnormal movements such as nocturnal paroxystic dystonia, which is very similar to epilepsy of frontal origin; nocturnal epileptic crises and especially periodic movements of the limbs and the restless legs syndrome, which is relates lo it. Physiological cyclical fluctuations of sleep are common to all these conditions and due to cortico-subcortical changes in excitability. CONCLUSION: We review diagnostic, clinical and neurophysiological criteria and aspects of physiopathology and treatment.

Adult↗

Increased incidence and severity of neuroleptic-induced movement disorder in pinealectomized rats.

The effects of prior pinealectomy on neuroleptic-induced perioral movements were examined in male Sprague-Dawley rats. Treatment with haloperidol resulted in significantly more severe movement disorder in pinealectomized rats than in unoperated control rats. Subsequent administration of melatonin (4 mg, i.p.) was associated with a nonsignificant reduction of the severity of movements in the pinealectomized rats within one hour. We conclude that pinealectomy facilitates the onset of neuroleptic-induced perioral movements, and suggest that impaired melatonin secretion may be implicated in the pathophysiology of tardive dyskinesia in humans.

Animals↗

[Lafora's disease and movement disorders: report of 2 cases].

Two cases of Lafora's disease with prominent movement disorders portraying rare initial manifestations are reported. In both patients, the first manifestations were cerebellar ataxia, dysartria and startle phenomenon. These symptoms occurred before seizures, myoclonic and progressive dementia, which are more well known as manifestations of Lafora's disease. The diagnosis was confirmed by the identification of PAS positive inclusion bodies in deep skin biopsy samples. Our patients presented an unexpected slow progression of the disease, with longer survival. Lafora's disease should be remembered among diseases causing slowly progressive ataxia associated with epileptic seizures.

Adult↗