Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifty patients with Leber's hereditary optic neuropathy (LHON) with an associated pathogenic mutation of mitochondrial DNA (mtDNA) at base pair (bp) 11778 (35 cases), 14484 (eight cases) or 3460 (seven cases) were matched with 50 controls. The frequency of additional neurological features in LHON and the role of a number of past medical and environmental factors in the development of the disease were investigated using a case-control study. Additional neurological features were reported by 15 patients. Four patients had a multiple sclerosis-like illness; one had focal dystonia. Ten patients had tremor, which occurred at significantly higher frequency in patients than in controls. Alcohol and tobacco consumption were similar in patients with the 11778 mutation and matched controls, but were significantly increased in patients with the 3460 and 14484 mutations. No other associated past medical or environmental factors were identified.
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PMID:A case-control study of Leber's hereditary optic neuropathy. 893 73

Sustained dystonia has seldom been reported during the course of multiple sclerosis (MS) [5-8, 10], and has been described as the first manifestation of the disease in only three cases [1,3]. We describe a patient with a diagnosis of laboratory-supported, defined MS in which sustained dystonia was the only neurological symptom.
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PMID:Dystonia as an isolated symptom of multiple sclerosis? 941 56

In the last decade, a new electrophysiological tool has become available since the development of painless magnetic stimulators able to activate the primary motor cortex and the motor roots in conscious man. Therefore, it became possible to measure the conduction time within fast-conducting central motor pathways by substracting from the total latency of muscle responses elicited by cortical stimuli the conduction time in peripheral nerves. This technique proved sensitive enough to illustrate early abnormalities of central motor conduction in various neurological diseases such as multiple sclerosis, amyotrophic lateral sclerosis, cervical spondylotic myelopathy, degenerative ataxias or hereditary spastic paraplegias. When recorded early after stroke, motor evoked potentials are also a valuable tool to predict functional outcome. They can also illustrate subtle pathophysiological disturbances in diseases where there is no direct involvement of central motor pathways such as Parkinson's disease, dystonia or epilepsy. Magnetic cortical stimulation also offers unique opportunities to explore intracerebral inhibitory and excitatory circuits and mechanisms of brain plasticity. The recent development of rapid rate stimulators also enables functional studies of non-motor cerebral regions such as visual or frontal cortices. Moreover, rapid rate stimulation seems useful in the treatment of drug-resistant depression but the safety of this procedure, particularly with regard to the production of seizures or kindling, remains to be fully documented.
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PMID:[Applications of cortical magnetic stimulation]. 956 96

The past two and a half decades have seen the development of a spinal cord stimulator from the early 2-electrode fixed system to the present multielectrode computerized systems. During these 25 years, spinal cord stimulation has been studied in the treatment of motor disorders. The effectiveness was studied in 1,336 cases, including cerebral palsy (456), dystonia (173), torticollis (90), multiple sclerosis (130), spinocerebellar degeneration (71), spinal cord injury (303) and posttraumatic brain injury (113). It has become increasingly evident that the maximum therapeutic effect is achieved by virtue of the applied field variables of the spinal cord level stimulated, the field configuration, its polarity, and the frequency of the stimulation. These observations have led to investigational corollaries of the therapeutic specificity of the applied field, the neurophysiologic mechanisms of these fields and the underlying abnormal neurophysiologic substrate, which may indeed be secondary to abnormalities in the nerve impulse itself.
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PMID:Spinal cord stimulation: a quarter century of development and investigation. A review of its development and effectiveness in 1,336 cases. 971 69

The clinical, pathophysiological and genetic features of some of the paroxysmal movement disorders are reviewed. Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is a condition in which brief and frequent dyskinetic attacks are provoked by sudden movement. PKC is more common in men and can be idiopathic (commonly familial) or due to a variety of causes. The pathophysiology of PKC is uncertain but it could be an ion-channel disorder. Antiepileptic drugs particularly carbamazepine are very helpful in a large proportion of cases. Paroxysmal exercise induced dystonia (PED) is a rare disorder manifesting as episodes of dystonia mostly affecting the feet induced by continuous exercise like walking or running. Although the initial cases were familial, there is a higher proportion of sporadic cases. The pathophysiology of PED is unknown and antiepileptic drugs are generally unhelpful. In paroxysmal dystonic choreoathetosis/non-kinesigenic dyskinesias (PDC/PNKD) the attacks are of long duration and induced by variety of factors including coffee, tea, alcohol and fatigue but not by sudden movement. PDC can be idiopathic (familial or sporadic) or symptomatic due to a variety of causes. The gene for familial PDC has been linked in 2 families to chromosome 2 q close to a cluster of ion channel genes again suggesting that this disorder may also be a channelopathy. Other paroxysmal disorders include paroxysmal nocturnal dyskinesia, a form of frontal lobe epilepsy in some cases which may be familial with autosomal dominant inheritance (ADNFLE). The gene for ADNFLE in one family has been found to be a mutation in the neuronal acetylcholine receptor gene (CHRNA4) on chromosome 20q. Tonic spasms in multiple sclerosis and Sandiffers syndrome producing intermittent torticollis in infants and children are other paroxysmal movement disorders.
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PMID:The paroxysmal dyskinesias. 1032 9

In recent years there has been renewed interest in the role of autoimmunity in many neurological disorders such as multiple sclerosis and neurodegenerative diseases. Research advances in this field have led to the discovery of new potential therapeutic strategies. There are, however, only a few neurological disorders in which an autoimmune origin has been adequately documented and definitely confirmed. The most important neurological diseases causing movement disorders in which an autoimmune basis has been demonstrated are summarized in this review. The possible role of immunity with the most frequent movement disorders such as parkinsonism or dystonia is also commented.
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PMID:Movement disorders of autoimmune origin. 1043 65

In just 12 years since its introduction, deep brain stimulation (DBS) has become well established as a safe and effective therapy in the treatment of medically refractory movement disorders. Ventralis intermedius (Vim) DBS has virtually replaced thalamotomy in the routine clinical treatment of essential tremor, affording relief to thousands of patients who previously would not have undergone surgery, and there is increasing usage of Vim DBS in other tremors of intention (e.g., multiple sclerosis). Subthalamic nucleus (STN) and globus pallidus internus (GPi) DBS have revolutionized the treatment of advanced stage Parkinson's disease, improving all cardinal disease features and increasing 'on' time without dyskinesias. Finally, DBS of various sub-cortical structures is being developed and tested in other less prevalent movement disorders such as dystonia. Future developments in this rapidly advancing area will no doubt include widening indications for this relatively safe surgical procedure, elucidation of the mechanisms of action of electrical stimulation, and technological advancements improving effectiveness and convenience.
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PMID:Advances in neurostimulation for movement disorders. 1076 17

We present a case of paroxysmal hemidystonia in a patient with an isolated demyelinating lesion in the subthalamic region, involving the posterior arm of the internal capsule and extending to the subthalamic nucleus and mesencephalon, possibly due to multiple sclerosis. Compared with similar reports in the literature, in our case there was a paucity of lesions, permitting a more direct clinico-anatomical correlation. The role of the subthalamic region and basal ganglia circuitry in the genesis of symptomatic dystonia is discussed.
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PMID:Symptomatic paroxysmal hemidystonia due to a demyelinating subthalamic lesion. 1105 43

Intrathecal administration of baclofen has proved to be an effective treatment of spasticity related to CNS damage. Especially patients with spinal spasticity due to traumatic spinal cord injury or transverse myelitis showed a dramatic reduction of spasticity and improvement of their Ashworth scores. The results are, however, often disappointing in patients with muscular hypertension of the extensor muscles, which is frequently found in patients with multiple sclerosis or cerebral hypoxia. In the latter, using intrathecal baclofen may be restricted by serious side effects. Botulinumtoxin A is widely used in patients with various forms of dystonia. It has also been studied in spastic disorders, where local injections were valuable in relieving focal spasticity in hemiparetic patients and in infantile cerebral palsy. It is used only cautiously in severe paraspasticity. The case reports of 4 patients with incomplete and complete paraparesis due to spinal cord injury, neurodegenerative pyramidal disorder, and cerebral hypoxia demonstrate that a combination of intrathecal baclofen and botulinumtoxin A can improve clinical benefits and reduce side effects.
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PMID:[Optimized therapy of spastic syndrome by combination intrathecal baclofen with botulinum toxin]. 1113 87

Movement disorders have been treated neurosurgically since the 1930s. Current diagnoses for neurosurgical interventions are Parkinson's disease, essential tremor, multiple sclerosis, and some dystonic disorders such as idiopathic torsions dystonia. By using stereotactic image-guided techniques, targets can be chosen to treat different symptoms: the ventrointermediate nucleus of thalamus for tremor; the internal globus pallidus for dyskinesia, dystonia, rigidity, akinesia, and tremor; and the subthalamic nucleus for all cardinal symptoms in advanced Parkinson's disease, including drug-induced hyperkinesia (secondary to reduced drugs). The surgical approaches can be divided into three main groups: destructive (e.g., lesional surgery), reversible and adjustable (e.g., permanent electro-inhibition/stimulation), and reconstructive (e.g., fetal nerve cell transplantation). Reconstructive procedures, which are not discussed here, are still in the early developmental phase. All the methods have advantages and disadvantages; therefore, it is important that the right target and technique be chosen for each patient.
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PMID:Neurosurgery for movement disorders. 1132 22


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