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At least 613 records · Page 34Linked to original sources
PubMed2006

Size bias of fragile X premutation alleles in late-onset movement disorders.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by premutation expansions (55-200 CGG repeats) of the FMR1 gene, shares clinical features with other movement disorders, particularly in the domains of gait ataxia, intention tremor and parkinsonism. However, the prevalence of FXTAS within other diagnostic categories is not well defined. METHODS: A meta-analysis was conducted of all published (n = 14) genetic screens for expanded FMR1 alleles to assess the prevalence and CGG-repeat size bias of FMR1 premutation alleles in those populations. RESULTS: In men with late-onset cerebellar ataxia, the prevalence of premutation alleles (1.5%; 16/1049) was 13 times greater than expected based on its prevalence in the general population (2%; 16/818 for age of onset >50 years; odds ratio 12.4; 95% confidence interval 1.6 to 93.5). Meta-analysis of CGG-repeat data for screened patients with premutation alleles shows a shift to larger repeat size than in the general population (p<0.001). 86% (19/22) of premutation alleles were larger than 70 repeats in the patients screened, whereas only approximately 22% of premutation alleles are larger than 70 repeats in the general population. CONCLUSIONS: Expanded FMR1 alleles contribute to cases of late-onset sporadic cerebellar ataxia, suggesting that FMR1 genetic testing should be carried out in such cases. The biased distribution of FMR1 allele sizes has substantial implications for genetic counselling of carriers with smaller alleles who are at a low risk of developing FXTAS, and suggests that the estimated prevalence of FXTAS among men >50 years of age in the general population may be two to threefold lower than the initial figure of 1 in 3000.

Adult↗
PubMed1998

Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee.

This is a proposal of the Movement Disorder Society for a clinical classification of tremors. The classification is based on the distinction between rest, postural, simple kinetic, and intention tremor (tremor during target-directed movements). Additional data from a medical history and the results of a neurologic examination can be combined into one of the following clinical syndromes defined in this statement: enhanced physiologic tremor, classical essential tremor (ET), primary orthostatic tremor, task- and position-specific tremors, dystonic tremor, tremor in Parkinson's disease (PD), cerebellar tremor, Holmes' tremor, palatal tremor, drug-induced and toxic tremor, tremor in peripheral neuropathies, or psychogenic tremor. Conditions such as asterixis, epilepsia partialis continua, clonus, and rhythmic myoclonus can be misinterpreted as tremor. The features distinguishing these conditions from tremor are described. Controversial issues are outlined in a comment section for each item and thus reflect the open questions that at present cannot be answered on a scientific basis. We hope that this statement provides a basis for better communication among clinicians working in the field and stimulates tremor research.

Adult↗
PubMed2005

Common movement disorders affecting the larynx: a report from the neurolaryngology committee of the AAO-HNS.

Laryngeal physiology depends on dynamic neuromuscular forces acting on a basic framework of cartilage and specialized soft tissues, that is, the vocal folds. A working understanding of this organ in health and disease requires knowledge of specific neurological processes that may affect voice, swallowing, and airway regulation. Neuromuscular impairment continues to be a dominant topic in the study of laryngeal disorders. This subcommittee presentation reviews important aspects of the neurolaryngeal history and physical examination. After this foundation, 4 common movement disorders affecting the larynx are covered in separate subsections. These are stroke, Parkinson's disease, laryngeal tremor, and spasmodic dysphonia. State-of-the-art reviews reflecting our understanding of these clinical issues are presented in this summary.

Age Distribution↗
PubMed1977

Movement disorders induced in monkeys by chronic haloperidol treatment.

After several months of treatment, Cebus apella, Cebus albifrons, and Saimiri sciurea monkeys maintained on haloperidol, in doses of 0.5 or 1.0 mg/kg orally 5 days per week, began to display severe movement disorders, typically 1-6 h post-drug. Cebus monkeys exhibited violent, uncontrolled movements that flung the animals about the cage. Such episodes usually lasted only a few minutes, recurring several times during the period following drug ingestion. Writhing and bizarre postures dominated the response in S. sciurea. Cessation of drug treatment produced no distinctive after-effects. When tested as long as 508 days after the last administration, however, Cebus monkeys responded to haloperidol with several episodes of hyperkinesis, even at challenge doses considerably lower than those in the original treatment.

Animals↗
PubMed2005

Abnormal H-reflexes in periodic limb movement disorder; impact on understanding the pathophysiology of the disorder.

OBJECTIVE: To get more insight in the pathophysiological basis of periodic limb movement disorder (PLMD) with or without restless legs syndrome (RLS), we investigated whether these patients have spontaneous changes in H-reflexes or show altered reflex patterns after (external) inhibition or excitation of the relevant spinal segment. METHODS: The ratio of the peak-to-peak values of the maximal soleus H-reflex and the maximal direct muscle potential (H/M ratio), H-reflex recruitment curves, vibratory inhibition and recovery curves of the soleus H-reflex in double stimulus experiments were measured in 9 PLMD patients and 11 controls. RESULTS: In comparison to controls the vibratory inhibition, predominantly reflecting pre-synaptic inhibitory action, was depressed in PLMD patients. The soleus H-reflex recovery curves showed increased late facilitation and depressed late inhibition, both reflecting diminished inhibition due to post-synaptic central activity. CONCLUSIONS: Our data indicate diminished inhibition at spinal level in PLMD patients. This is probably due to altered function of the descending spinal tracts, peripheral influence or changes at the inter-neural circuitry at spinal level itself, or combinations of these 3 possibilities. SIGNIFICANCE: The results of this study give further insight in the pathophysiology of PLMD and RLS by stressing the importance of diminished central inhibition.

Adult↗
PubMed1992

[Treatment of movement disorders using botulinum toxin].

Intramuscular injections of botulinum toxin (Botox) are followed by a dose-dependent focal paresis which can be used to treat several focal movement disorders. Botox injections are recommended as effective for the treatment of blepharospasm, hemifacial spasm, and cervical dystonia (torticollis). Focal dystonias elsewhere (for example, writer's cramp) can often be treated with similar success. Others, such as oromandibular dystonia, are more difficult to treat. In the case of more generalized dystonias, some focal muscle spasms can be treated with success by local intramuscular injections. New indications are still being investigated, for example in focal tremors and spasticity. Side effects are in general slight and disappear at the end of toxin effect. In general, it is necessary to repeat the injections after a couple of months, due to a cessation of effect after regrowth of nerve terminals. New injections have similar effects even over years of treatment.

Botulinum Toxins↗
PubMed2003

Therapeutic extradural cortical stimulation for movement disorders: a review.

Extradural motor cortex stimulation was introduced in 1989 for control of central pain. In recent years this has been found useful in several patients with movement disorders. This paper attempts to bring together all the relevant literature, discuss mechanisms and lay out guidelines for future research and clinical applications.

Adult↗
PubMed2005

Movement disorder emergencies.

For the past 4 years, Dr. Stanley Fahn and I have given a course at the American Academy of Neurology annual meeting on the topic of movement disorder emergencies. The purpose of this review article is to summarize the topic and to present it to readers of this journal. The text of this article has appeared in nearly the same form as the Academy syllabus accompanying our course. It is being presented here so that readers of the journal may review the material.

Acute Disease↗
PubMed1986

Electrophysiological correlates of a paroxysmal movement disorder.

Averaged electroencephalographic activity related to rhythmic jerking movements was recorded in a patient with a complex neurological symptomatology. The diagnosis of a functional disorder was strongly suggested by his clinical course, inconsistent findings from physical examination, and negative workup. His abnormal movements were associated with the same electrophysiological correlates as normal willed motion, suggesting that averaged movement potentials may provide useful information in the study of patients with suspected functional movement disorders.

Adult↗
PubMed1978

Pharmacological investigations of the cholinergic imbalance hypotheses of movement disorders and psychosis.

The hypotheses of relative cholinergic underactivity in Huntington's disease, tardive dyskinesia, mania, and schizophrenia were pharmacologically investigated, using physostigmine and choline chloride. Intravenous physostigmine improved the involuntary movements of all of four patients with tardive dyskinesia and three of six patients with Huntington's disease. Physostigmine infusion also decreased manic symptoms in six of nine patients with mania, but had no beneficial effects in three patients with schizophrenia. Precursorloading with choline chloride may increase brain acetylcholine levels and central cholinergic activity. In patients with movement disorders a transient improvement during physostigmine infusion predicted a positive response to a trial of oral choline chloride. One manic patient may have been improved by choline chloride, however choline chloride did not improve symptoms in four of six schizophrenix patients. Chronic treatment with oral choline chloride increases plasma levels of choline during administration and for approximately 48 hr after discontinuation of treatment. A single 5-g dose of choline chloride also transiently raises plasma choline levels. These results with physostigmine support the hypotheses of cholinergic underactivity in Huntington's disease, tardive dyskinesia, and mania. Agents which might chronically increase cholinergic activity such as choline chloride should be further tested in these disorders.

Acetylcholine↗
PubMed1998

Long-term electrical inhibition of deep brain targets in movement disorders.

Stimulation of the thalamic nucleus ventralis intermedius (Vim) at high (130-Hz) frequency has been used over the last 8 years as a treatment in 134 patients with movement disorders (91 Parkinson's disease [PD], 23 essential tremor [ET], 21 various dyskinesias and dystonias, including four multiple sclerosis [MS]), implanted with long-term electrodes connected to a programmable stimulator. In PD patients, tremor was selectively suppressed for < or = 11 years. In ET patients, results were satisfactory, but in 35% of the cases deteriorated with time, when tremor had an action component. Other types of dyskinesias were much less influenced. Sixty-eight patients were bilaterally implanted, and 14 were implanted contralateral to a previous thalamotomy. Side effects were often minor, well tolerated, and immediately reversible. Three secondary scalp infections led to temporary removal of implanted material. There was no permanent morbidity. Long-term Vim stimulation, which is reversible, adaptable, and well tolerated, even by bilaterally operated-on (68 of 134) and by elderly patients, should replace thalamotomy in the regular surgical treatment of parkinsonian and essential tremors. More recently, we stimulated the subthalamic nucleus (STN) in 51 patients (44 bilateral) and the globus pallidus internus (GPi) in 12 patients (seven bilateral). STN stimulation has a spectacular effect on akinesia and rigidity and may improve the patients so as to maintain them all day at a level similar to their best "on" periods. A 30-50% reduction in drug dosage was possible in most of the patients. GPi stimulation has indications and effects similar to those of pallidectomy: abnormal involuntary movements are totally suppressed, whereas effects on akinesia and rigidity are not so important as they are with STN stimulation. For all three targets, morbidity is low and reversible, even when bilateral implantations are performed. The deep-brain stimulation method has now proved its safety as compared with ablative surgery and is able to provide a significant improvement to these severely disabled patients. Long-term follow up is establishing the security of the method, which should be considered in earlier stages of the disease actively to participate to rehabilitation.

Electric Stimulation↗
PubMed2001

Sleep laboratory studies in periodic limb movement disorder (PLMD) patients as compared with normals and acute effects of ropinirole.

Periodic limb movement disorder (PLMD) occurs in a variety of sleep disorders and can cause insomnia as well as hypersomnia with daytime somnolence. The aim of this study was to investigate 12 untreated PLMD patients as compared with 12 normal controls and to measure the acute effects of 0.5 mg ropinirole (Requip((R))) - a non-ergoline dopamine agonist - as compared with placebo. In three nights (adaptation, placebo, ropinirole night) objective and subjective sleep and awakening quality were evaluated. In the target variable 'periodic leg movements per hour of sleep' (PLM/(hTST)) PLMD patients showed an increased value of 42/h (normal 0-5/h) with a greater number of arousals due to periodic leg movements (PLM) in sleep. They further demonstrated an increased number of awakenings, sleep stage S1, S4, stage shifts and decreased S2, but there were no significant differences concerning total sleep time, sleep efficiency (SE), subjective sleep quality and morning measures of mood, drive and drowsiness. However, measures of attention variability, numerical memory, fine motor activity and reaction time performance were impaired. Ropinirole 0.5 mg was shown to significantly improve the index PLM/(hTST) by 64% and arousals due to PLM, increase spontaneous arousals, REM-latency, stage 2 and stage shifts and decrease SREM. In the morning attention variability was attenuated and numerical memory augmented. Thus, ropinirole improved some sleep architecture and early morning measures of performance but specifically all PLM variables, which suggests a dopaminergic pathogenesis in PLMD. Copyright 2001 John Wiley & Sons, Ltd.

Journal Article↗
PubMed1995

Prevalence of movement disorders in institutionalized elderly.

The proportion of the population over age 65 years is steadily increasing in Canada and the elderly who are unable to live independently are frequently institutionalized in chronic care facilities. We report our observations on movement disorders (MD) in an institutionalized elderly population of Saskatchewan. A representative sample of 67 subjects aged > or = 65 years had a detailed neurological evaluation on three separate occasions. MD were detected in 13 (19%) cases. The majority, 11 (16%), were females. Seven (10%) had essential tremor, 4 (6%) Parkinson's disease and 2 (3%) had drug-induced parkinsonism.

Aged↗
PubMed2003

Frontal N30 of median nerve SSEPs for evaluation of movement disorders with destructive basal ganglia deficits.

This study was performed to show the usefulness of N30 and N20 of median nerve SSEPs for evaluating the pathogenesis of central nervous system movement disorders. The subjects were 14 patients, consisting of 7 patients with an extrapyramidal lesion, 3 patients with suspicion of hypoxic-ischemic cerebral injury before birth period (H-I group), 3 patients with kernicterus during the neonatal period (kernicterus group), and 1 patient having Wilson's disease. Seven patients had spastic hemiplegia. Patients with athetotic CP had the ability to handle an electric wheelchair alone, and those with spastic hemiplegia could walk alone. Thirty control subjects were included in this study for clinical investigation. The characteristic finding of a predominant absence or amplitude reduction of frontal N30 compared with that of parietal N20 (4 and 1, respectively, out of 6 examinations) was obtained in athetotic CP patients of the H-I group. The predominant absence of N30 compared with N20 did not appear in the kernicterus group, hemiplegic patients or a patient with Wilson's disease. Therefore, frontal N30 might sensitively reflect destructive damage in the frontal basal ganglia in children.

Adolescent↗
PubMed1998

Hyperkinetic movement disorders misdiagnosed as tics in Gilles de la Tourette syndrome.

OBJECTIVE: To describe the gamut of movements misdiagnosed as tic exacerbations in Gilles de la Tourette syndrome (GTS) in a referral tertiary-care center. BACKGROUND: Movements seen in GTS can be classified as: (a) tics; (b) movements related to conditions associated with GTS, specifically obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), and antisocial behaviors; and (c) movements secondary to treatment. METHODS: We reviewed a videotape database and patient records from a tertiary treatment center for GTS and collected GTS cases referred for disease exacerbation who had both tics and non-tic movements thought by the referring physician, the patient, and the family to be an exacerbation of tics. RESULTS: Of 373 GTS cases, 12 had movement disorders secondary to treatment, and six had non-tic movements related to conditions commonly associated with GTS. In the former group, there were 7 patients with acute akathisia, 3 with acute dystonia, 1 with tardive chorea, 1 with withdrawal emergent chorea, and 5 with tardive dystonia. Six had movement disorders related to non-tic conditions commonly associated with GTS: four patients had movements associated with OCD, one with ADHD and antisocial behavior, respectively. CONCLUSION: There is a broad spectrum of movements in GTS that are not tics but can be misdiagnosed as tics. Clinical awareness of these movements is paramount to proper diagnosis and pharmacologic intervention.

Adolescent↗