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

A 70-year-old male began to show akinesia, rigidity of extremities, finger tremor, disturbed vertical external ocular movement, and nuchal dystonia, which progressed slowly. Brain CT scan and magnetic resonance images showed slight atrophy of the frontal lobe and slight enlargement of the lateral ventricles. Hasegawa's dementia rating scale-revised version gave a moderate score of 11/30 points. He died of pneumonia at the age of 76. The clinical diagnosis was progressive supranuclear palsy (PSP). However, there were no neuropathological characteristics of PSP. Neuropathologically, Parkinson's disease was diagnosed. In addition, many argyrophilic grains (ArGs) in the gray matter were stained, especially in the insula, amygdala, hippocampus, parahippocampal gyrus, lateral occipitotemporal gyrus, and substantia nigra, by the Gallyas-Braak method. We consider that ArGs could modify the symptoms of Parkinson's disease and that Parkinson's disease with ArGs may show a PSP-like clinical course.
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PMID:Parkinson's disease associated with argyrophilic grains clinically resembling progressive supranuclear palsy: an autopsy case. 1101 53

High-frequency stimulation of the subthalamic nucleus (STN) was used to investigate the relationship of sleep disorders with motor handicap in PD. In 10 insomniac patients with PD, stimulation reduced nighttime akinesia by 60% and completely suppressed axial and early morning dystonia, but did not alleviate periodic leg movements (n = 3) or REM sleep behavior disorders (n = 5). Total sleep time increased by 47%; wakefulness after sleep onset decreased by 51 minutes. Insomnia in patients with PD may predominantly result from nighttime motor disability.
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PMID:Improvement of sleep architecture in PD with subthalamic nucleus stimulation. 1111 33

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

Corticobasal degeneration (CBG) is an increasingly recognized neurodegenerative disease with both motor and cognitive dysfunction. The diagnosis is probably underestimated because of the heterogeneity of clinical features, overlap with symptoms, and pathologic findings of other neurodegenerative diseases. The most characteristic initial motor symptoms are akinesia, rigidity, and apraxia. Dystonia and alien limb phenomena are frequently observed. There is often a parkinsonian picture with failure or lack of efficacy of dopaminergic medical therapy. Cognitive decline, prompting the diagnosis of dementia, may be the most common presentation of CBD that is misdiagnosed. Pathology is characterized by an asymmetric frontoparietal neuronal loss and gliosis with ballooned, achromatic cortical neurons, nigral degeneration, and variable subcortical involvement. Neuroimaging and electrophysiologic studies may help with the diagnosis but are not specific. Treatment is primarily symptomatic and minimally effective, especially after the first several years of symptoms. CBD should be considered in the differential diagnosis of patients with motor and cognitive dysfunction presenting with cortical and subcortical features. Further studies to elucidate molecular abnormalities and biological markers associated with CBD are needed to improve clinical diagnosis and treatment of patients with this disorder.
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PMID:Corticobasal degeneration. 1134 25

Chronic high frequency (130 Hz) stimulation (HFS) of the thalamic target Vim, first used in our group in 1987 as a treatment of tremor of various origins, has been used over the last ten years in 137 patients. Since 1993, this method has been extended to two other targets (subthalamic nucleus (STN): 137 patients and the medial pallidum (GPi): 12 patients), based on recent experimental data in rats and monkeys. STN appears to be a target of major interest, able to control the three cardinal symptoms and to allow the decrease or suppression of levodopa treatment, which then also suppresses levodopa induced dyskinesias. The stereotactic technique is based on the determination of the target using ventriculography, MRI and electrophysiology, with both microrecording of single neuron activity and microstimulation inducing therapeutic symptom suppression and side effects. Chronic electrodes are then placed bilaterally at the best physiologically defined location and then connected to implantable stimulators (either 2 Itrel II or the new double channel Kinetra), operated at 130-185 Hz, 60 ms pulse width, 2.5 to 3.5 volts. There was no operative mortality and permanent morbidity was observed in 3 patients. The mechanisms of action of HFS are not fully understood, but are definitely related to high frequency and are probably different depending on the target. Inhibition of cellular activity or of neural network functions could be induced, by jamming of a retroactive loop for tremor, or by shutdown of neurotransmitter release in STN. Mechanisms within an individual target are also probably different for tremor or for other symptom alleviation. All cardinal symptoms are alleviated from tremor to akinesia and rigidity. This strong improvement allows the decrease of the drug dosage to approximately 30% of the preoperative level, which suppresses the levodopa-induced dyskinesias. The off period dystonias are also suppressed as well as freezings and falls. The effects remain stable over more than 5 years and in the same period, the off stimulation-off medication UPDRS remains stable and does not increase at the usual rate The low rate of permanent complications, the minor side effects and their immediate reversibility, the possibility of bilateral implantation in one session and the long-term persistence of symptom relief are strong arguments which support chronic HFS of STN as the method of choice when a surgical procedure is indicated for the treatment of Parkinson's disease and even more when a bilateral procedure is necessary. Recent data show that STN stimulation could be useful in the treatment of dystonia as well as some forms of epilepsy. It is therefore possible that DBS in STN as well as in other targets could become a potent therapeutic tool in the near future for neurological disorders.
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PMID:Deep brain stimulation of the corpus luysi (subthalamic nucleus) and other targets in Parkinson's disease. Extension to new indications such as dystonia and epilepsy. 1169 87

Sleep-related problems are common in Parkinson's disease (PD) and may occur due to the disease process, alteration in sleep architecture or nocturnal motor problems such as akinesia and dystonia. Neuropsychiatric problems and nocturia can also cause significant sleep disruption in PD. Poor sleep may lead to daytime consequences such as excessive daytime sleepiness or fatigue. As there are no PD-specific sleep scales, we have devised a simple visual analogue scale - the Parkinson's disease sleep scale (PDSS) which is aimed at formal quantification of various aspects of nocturnal sleep disturbance in PD. In this paper, we discuss the development of this scale, its clinical use and how the scale could be used to devise targeted treatment strategies for nocturnal problems in PD.
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PMID:Achieving 24-hour control of Parkinson's disease symptoms: use of objective measures to improve nocturnal disability. 1174 Oct 97

Inborn errors of catecholamine biosynthesis are rare but of great interest as they are genetic disorders, and in some, treatment may completely reverse severe neurological abnormalities. They also provide insights into the action of the biogenic amines in the developing brain. We describe the clinical course of an infant with tyrosine hydroxylase (TOH) deficiency over a 30-month period. The parents are consanguineous, and genetic analysis revealed the infant to be homozygous for the common G698A mutation in the TOH gene. TOH deficiency can be seen as a model of pure catecholamine deficiency. Experimental evidence, reports of other disorders of biogenic amines, and our experience with this infant suggest that the symptoms of catecholamine deficiency in infancy can be broadly subdivided. Signs of dopamine deficiency include tremor, hypersensitivity to levadopa (L-dopa) therapy, oculogyric crises, akinesia, rigidity, and dystonia. Manifestations of norepinephrine deficiency include ptosis, miosis, profuse oropharyngeal secretions, and postural hypotension. Hypersensitivity to L-dopa was a particular management problem in this infant.
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PMID:Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. 1192 Nov 23

Cabergoline (1-[(6-allelylergolin-8 beta-yl)carbonyl]-1-[3-(dimethylamino)propyl]-3-ethyl-urea) is a new agonist of the D2 dopaminergic receptors used in the treatment of Parkinson's disease. Cabergoline is characterized by unique pharmacologic properties, such as its long plasma half-life (about 68 hours), which allows for once a day administration. Cabergoline is well tolerated, as has been shown in several clinical trials. Based on the information available, we suggest that cabergoline produces an improvement in the symptoms of Parkinson's disease similar to those produced by other dopaminergic agonists. Cabergoline monotherapy, when used in previously untreated patients, is an appropriate option for the symptomatic treatment of Parkinson's disease. Cabergoline improves motor symptoms, delays the presentation of levodopa-induced motor complications, and diminishes the amount of levodopa required for the control of the symptoms. We suggest that cabergoline is an adequate adjuvant treatment for Parkinson' disease. There is improvement in motor symptoms (without substantially increased dyskinesias), reduced severity and duration of the wearing-off period, and diminished need for levodopa. Cabergoline can also be useful in the treatment of sleep disturbances associated with advanced Parkinson's disease such as nocturnal akinesia and dystonia. However, additional studies on cabergoline's effects in nocturnal disturbances associated with Parkinson's disease are still required. Cabergoline is a well tolerated drug. Its side effects are seen mainly in the digestive and nervous system (central and peripheral). The efficacy of cabergoline in comparison to other dopaminergic agonists should be tested in future clinical studies.
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PMID:[Cabergoline in the treatment of Parkinson's disease]. 1272 65

Dystonia is a rare complication of acquired immune deficiency syndrome (AIDS). We report four such cases related to three different causes. Cases 1 and 2 both developed dystonia secondary to biopsy-proven progressive multifocal leukoencephalopathy. One had left arm dystonia, whereas the other had bilateral upper limb dystonia. One patient had associated akinesia and rigidity. Imaging demonstrated frontal and/or parietal white matter lesions but no basal ganglia abnormalities. Case 3 developed hemidystonia and cervical dystonia from biopsy-proven toxoplasmosis with a lesion in the thalamus. Case 4 suffered from AIDS dementia complex and developed cervical dystonia while taking risperidone therapy. We also review previously reported cases of dystonia in AIDS patients with the same causes and discuss the issue of increased vulnerability of the basal ganglia to HIV infection which, in turn, leads to increased sensitivity to neuroleptics. When dystonia is seen in AIDS patients, its pattern may be a clue to the ultimate cause.
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PMID:Dystonia in AIDS: report of four cases. 1467 86

The aim of this study was to present the clinical characteristics of and the evaluation methods for the motor complications sometimes observed in the early stages of Parkinson's disease, differentiating motor fluctuations and levodopa-induced dyskinesias. The most common forms of motor fluctuations are the predictable end-of-dose deterioration (wearing off), the early-morning akinesia, and the on-off phenomenon. Non-motor fluctuations are often associated with different symptoms: dysautonomia, pain, psychic or cognitive signs during off periods and sometimes also during on periods. Levodopa-induced dyskinesias are classified according to their temporal profile after drug administration, namely peak-dose dyskinesias (mainly choreic movements), biphasic dyskinesias--onset and end-of-dose--(mainly dystonic and ballic movements), and finally off-period dyskinesias (dystonic movements). Clinical evaluation of motor complications must be performed precisely to establish the best therapeutic strategy.
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PMID:[Motor complications in dopa treatment of parkinson disease: clinical description and evaluation]. 1519 75


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