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Primate models of movement disorders of basal ganglia origin.

Movement disorders associated with basal ganglia dysfunction comprise a spectrum of abnormalities that range from the hypokinetic disorders (of which Parkinson's disease is the best-known example) at one extreme to the hyperkinetic disorders (exemplified by Huntington's disease and hemiballismus) at the other. Both extremes of this movement disorder spectrum can be accounted for by postulating specific disturbances within the basal ganglia-thalamocortical 'motor' circuit. In this paper, Mahlon DeLong describes the changes in neuronal activity in the motor circuit in animal models of hypo- and hyperkinetic disorders.

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

Movement disorders and alcohol misuse.

Many movement disorders, including tics, chorea, tremor, myoclonus and parkinsonism, may result from substance abuse. However, alcohol in particular is associated in a more complex manner with two specific movement disorders, essential tremor (ET) and myoclonus-dystonia (M-D). In this review we discuss the comorbidity of alcohol abuse in both ET and M-D, the ameliorative effects of alcohol in both diseases, and review the data evaluating alcohol abuse secondary to self-medication. We also discuss shared pathophysiologic mechanisms in the understanding of both of these disorders, as the elucidation of the mechanisms by which alcohol exerts its effects may lead to novel therapeutic approaches.

Adjuvants, Anesthesia↗

A simple model of the interactions of dopamine, acetylcholine and GABA in movement disorders seen in psychiatry.

Many of the movement disorders seen in psychiatric patients are determined, in large part, by the dynamic balance of dopamine and acetylcholine in the basal ganglia. Gamma aminobutyric acid has effects on various neurotransmitters in the brain including dopamine and acetylcholine and is therefore relevant to a discussion of movement disorders. Laboratory and clinical data on the effects of gamma aminobutyric acid on dopamine and acetylcholine are discussed, and a simple model of the interactions of these transmitters, with respect to movement disorders seen in psychiatry, is discussed. Some clinical evidence that is consistent with this model is discussed. Guidelines for the use of gamma aminobutyric acid--like drugs for movement disorders seen in clinical practice are also discussed.

Acetylcholine↗

Psychogenic movement disorders: frequency, clinical profile, and characteristics.

Of 842 consecutive patients with movement disorders seen over a 71 month period, 28 (3.3%) were diagnosed as having a documented or clinically established psychogenic movement disorder. Tremor was most common (50%) followed by dystonia, myoclonus, and parkinsonism. Clinical descriptions of various types are reviewed. Clinical characteristics common in these patients included distractability (86%), abrupt onset (54%), and selective disabilities (39%). Distractability seems to be most important in tremor and least important in dystonia. Other diagnostic clues included entrainment of tremor to the frequency of repetitive movements of another limb, fatigue of tremor, stimulus sensitivity, and previous history of psychogenic illness. On examination, 71% had other psychogenic features. Over 60% had a clear history of a precipitating event and secondary gain and 50% had a psychiatric diagnosis (usually depression). Twenty five per cent of patients presented with combined psychogenic movement disorder and organic movement disorder; 35% resolved and this subgroup had a shorter duration of disease than those who are unresolved. Psychogenic movement disorder represents an uncommon diagnosis among patients with movement disorders. The ability to make a diagnosis rests on the presence of a multitude of clinical clues and therapeutic action should be taken as early as possible.

Adolescent↗

Movement disorders induced by peripheral trauma.

Movement disorders induced by central nervous system trauma are well recognized. However, over the last few years, attention has been drawn to the role of peripherally induced movement disorders. We describe three patients presenting respectively dystonia, tremor and choreoathetosis associated with tremor and dystonia of the body parts previously exposed to traumatic injuries. Pathophysiological mechanisms underlying these phenomena are not entirely known, but functional changes in afferent neuronal input to the spinal cord and secondary affection of higher brain stem and subcortical centers are probably involved.

Adult↗

Movement disorders in children: Tourette syndrome.

Movement disorders in childhood are rare, but their occurrence is dramatic and frightening. Differential diagnosis depends primarily on a detailed evaluation of the history and an analysis of the characteristics of the movements. Tics are the most common movement disorder in childhood, ranging in severity for simple transient tics to the complex Tourette syndrome, which may be associated with many bizarre behaviors. Minimal defining characteristics of Tourette syndrome are the presence of multiple motor and vocal tics. Associated features may include echolalia, coprolalia, complex stereotyped movements, and compulsive behavior. There is a prominent familial occurrence of Tourette syndrome. Stimulant drugs may cause exacerbation of symptoms. The only consistency useful medication is haloperidol, but its use is associated with side effects in approximately 50% of the patients treated.

Athetosis↗

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed "RNUopathies." We analyzed genome sequencing data from 14 patients with undiagnosed pediatric movement disorders for pathogenic variants in snRNA genes. We identified recurrent de novo RNU2-2 variants (n.35A > G and n.4G > A) in two patients with intellectual disability, epilepsy, and hyperkinetic movement disorders. RNA sequencing of fibroblasts in one patient showed no characteristic transcriptomic signature. Spliceosomopathies should be considered in neurodevelopmental disorders and developmental and epileptic encephalopathies with hyperkinetic features.

Humans↗

Tremor and other movement disorders after whiplash type injuries.

Movement disorders are usually of central origin, but have been reported in association with peripheral trauma. Injuries to the neck of the whiplash type provide a source of both types of injuries. Six cases are reported in which the temporal relation between the injury and the movement disorder make a causal relation likely. This important cause of disability has not previously been appreciated.

Adolescent↗

Movement disorders with cerebral toxoplasmosis and AIDS.

Movement disorders occur in some patients with cerebral toxoplasmosis with HIV-1 infection. Such movement disorders have not been described in patients with cerebral toxoplasmosis without HIV-1 infection. This report discusses their diagnostic features, aspects of management, and possible mechanisms underlying the pathogenesis of the movement disorders.

AIDS-Related Opportunistic Infections↗

[The genetics of movement disorders--spinocerebellar degenerations].

BACKGROUND: Hereditary movement disorders include spinocerebellar disorders, a large and heterogeneous group of syndromes with ataxia or spasticity as the prominent symptom. In spite of the vast clinical and genetic heterogeneity, patterns of pathogenesis slowly emerge and help us understand these disorders. MATERIAL AND METHODS: This review is based on personal experience and recent literature. RESULTS: More than 20 types of hereditary spastic paraparesis have been reported. Dominant SPG4 and SPG3 with mutations in the spastin or the atlastin gene have been identified in many countries. The most prevalent type of recessive ataxia in Europe, Friedreich's ataxia, has become a model of integrated clinical-molecular-therapeutic research. More recessive ataxias (AOA1-2) have been described recently. More than 20 autosomal dominant ataxias have been reported, with 12 identified genes including the episodic ataxias, and 9 mapped. SCA7 appears to be the most frequent type in some Nordic countries. INTERPRETATION: A striking feature of many of these diseases is the involvement of very different genes for similar phenotypes. Conversely, very heterogeneous phenotypes are due to single-gene defects. Recently there has been considerable progress in the clinical description of movement disorders and the understanding of their genetic basis. Possible therapies are emerging.

Genotype↗

Post-stroke movement disorders: report of 56 patients.

BACKGROUND: Although movement disorders that occur following a stroke have long been recognised in short series of patients, their frequency and clinical and imaging features have not been reported in large series of patients with stroke. METHODS: We reviewed consecutive patients with involuntary abnormal movements (IAMs) following a stroke who were included in the Eugenio Espejo Hospital Stroke Registry and they were followed up for at least one year after the onset of the IAM. We determined the clinical features, topographical correlations, and pathophysiological implications of the IAMs. RESULTS: Of 1500 patients with stroke 56 developed movement disorders up to one year after the stroke. Patients with chorea were older and the patients with dystonia were younger than the patients with other IAMs. In patients with isolated vascular lesions without IAMs, surface lesions prevailed but patients with deep vascular lesions showed a higher probability of developing abnormal movements. One year after onset of the IAMs, 12 patients (21.4%) completely improved their abnormal movements, 38 patients (67.8%) partially improved, four did not improve (7.1%), and two patients with chorea died. In the nested case-control analysis, the patients with IAMs displayed a higher frequency of deep lesions (63% v 33%; OR 3.38, 95% CI 1.64 to 6.99, p<0.001). Patients with deep haemorrhagic lesions showed a higher probability of developing IAMs (OR 4.8, 95% CI 0.8 to 36.6). CONCLUSIONS: Chorea is the commonest movement disorder following stroke and appears in older patients. Involuntary movements tend to persist despite the functional recovery of motor deficit. Deep vascular lesions are more frequent in patients with movement disorders.

Adolescent↗

Rhythmic movement disorder (head banging) in an adult during rapid eye movement sleep.

Sleep-related rhythmic movements (head banging or body rocking) are extremely common in normal infants and young children, but less than 5% of children over the age of 5 years old exhibit these stereotyped motor behaviors. They characteristically occur during drowsiness or sleep onset rather than in deep sleep or rapid eye movement (REM) sleep. We present a 27-year-old man with typical rhythmic movement disorder that had persisted into adult life and was restricted to REM sleep. This man is the oldest subject with this presentation reported to date and highlights the importance of recognizing this nocturnal movement disorder when it does occur in adults.

Adult↗

Psychiatric aspects of abnormal movement disorders.

It has been postulated that some movement disorders are secondary to unresolved, unconscious mental conflict; however, psychotherapeutic intervention has been unsuccessful and psychoanalytic formulations have not been shown to be valid. In addition, there is the interesting observation that some medications, stereotactic surgery and biofeedback have been successful in treating movement disorders. Moreover, as in the cases of amphetamine-induced stereotyped behavior, Parkinsonism, the acute dyskinesias, and Tardive Dyskinesia, there is evidence that some involuntary disorders of movement are biochemically mediated. Organicity, in varying degrees and involving different anatomical and physiological areas, has been observed in Tourette's Syndrome, Parkinson's disease and Huntington's disease. These diseases are usually associated with adjustment problems because of the effect that they have on the patient and the patient's family. Some of these psychosocial problems are discussed.

Antipsychotic Agents↗

Movement disorders of familial neuroacanthocytosis syndrome.

Characteristic movement disorders were observed in two siblings who had neuroacanthocytosis syndrome with normal serum lipoprotein levels. The disorders included orolingual tic-like movements associated with vocalization, biting of the lip and tongue, peculiar dysphagia with bird-like drinking, and postural lapse with abrupt buckling of the knees. In addition, subtle features of parkinsonism and chorea were observed. These movement problems are strikingly similar to those described in cases of neuroacanthocytosis syndrome in several other familial and sporadic cases. Careful observations of these unusual movement disorders may provide a clue to the diagnosis of this rare syndrome.

Acanthocytes↗

Movement disorders in alcoholism: a review.

A wide variety of movement disorders are associated with alcohol abuse. Some idiopathic movement disorders are markedly improved by small amounts of alcohol and this response occasionally may lead to alcoholism. Alcohol abuse alone or combined with hepatic encephalopathy can cause various types of tremor, asterixis, and cerebellar dysfunction. Alcohol withdrawal is occasionally complicated by transient basal ganglia dysfunction manifested by parkinsonism or chorea. These syndromes are distinct from the movement disorders complicating acquired hepatolenticular degeneration occurring in some chronic alcoholics. This review discusses the clinical and pathophysiologic aspects of the movement disorder syndromes that complicate alcohol abuse.

Alcoholism↗

Dementia in movement disorders.

Of all the movement disorders, Huntington's disease has been most consistently associated with dementia, while it is only over the last decade that intellectual cognitive decline have been recognized as common features of Parkinson's disease. It is now known that the pathology in these two conditions reflects differential involvement of the striatum. The Huntington lesion is primarily in the caudate, while the Parkinson lesion preferentially affects the putamen. Both conditions have more diffuse pathology, and dementia may also occur in a wide range of other extrapyramidal diseases, such as progressive supranuclear palsy, the parkinsonism-dementia complex of Guam, and certain spinocerebellar degenerations. Clinicopathological correlations will be reviewed in these disorders of primarily subcortical pathology, and comparisons will be made with Alzheimer's disease, a disorder of predominantly cortical pathology.

Alzheimer Disease↗

Neuromodulation for movement disorders.

The field of movement disorder surgery is expanding rapidly. This has been accompanied by improvements in neuromodulation technology and neuroimaging, in addition to a realisation that the medical and destructive neurosurgical methods previously employed do not provide an acceptable long-term benefit for many of these patients. The contemporary treatment of Parkinson's disease, dystonia, and other tremulous disorders using deep brain chronic electrical stimulation will be reviewed, and future directions discussed.

Animals↗

[Periodic limb movement disorder].

The periodic limb movements (PLM) are defined as stereotyped, periodic movements of the legs and/or upper limbs during sleep. The patient exhibits dorsifilexion of the ankle and extension of the big toe with occasional flexion of the knee and hip. PLM originally was described as "nocturnal myoclonus" by Symonds in 1953. Recently, the term "nocturnal myoclonus" has been replaced with PLM, because the movements are slower than true myoclonic movement. The appearance of PLM was reported in sleep apnea syndrome, delayed sleep phase syndrome, narcolepsy, spinal cord tumor, diabetes mellitus and uremia. The prevalence of PLM statistically increase with age. Patients with PLM show excessive daytime sleepiness or insomnia. Several reports show the difficulty recognizing periodic limb movement disorder (PLMD) without polysomnography (PSG). The diagnosis of PLMD is established only by PSG.

Anticonvulsants↗