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)

Ventricular fluid concentrations of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), the respective metabolites of dopamine and serotonin, were measured in 57 patients undergoing thalamotomy for relief of movement disorders. The diseases included were Parkinson disease, dystonia, cerebral palsy, multiple sclerosis, and posttraumatic or posthypoxic encephalopathy. Untreated parkinsonian patients had the lowest mean HVA level (119 ng per milliliter). Patients with multiple sclerosis or with posttraumatic or posthypoxic encephalopathy with both intellectual impairment and bilateral motor involvement had lower mean HVA levels (197 and 177 ng per milliliter, respectively) than cerebral palsy patients with bilateral motor disease (233 ng per milliliter), dystonia patients (246 ng per milliliter), or multiple sclerosis patients with normal intellect (376 ng per milliliter). The data suggest that diffuse cerebral disease may lead to diminished dopaminergic activity. Ventricular fluid 5-HIAA levels were similar in all groups of patients. Chronic cerebellar stimulation markedly increased ventricular fluid HVA and 5-HIAA levels, indicating that cerebellar stimulation affected cerebral dopaminergic and serotonergic systems.
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PMID:Ventricular fluid homovanillic acid and 5-hydroxyindoleacetic acid concentrations in patients with movement disorders. 56 83

Animal data indicate that serotonin (5-HT) is a major neurotransmitter involved in the control of numerous central nervous system functions including mood, aggression, pain, anxiety, sleep, memory, eating behavior, addictive behavior, temperature control, endocrine regulation, and motor behavior. Moreover, there is evidence that abnormalities of 5-HT functions are related to the pathophysiology of diverse neurological conditions including Parkinson's disease, tardive dyskinesia, akathisia, dystonia, Huntington's disease, familial tremor, restless legs syndrome, myoclonus, Gilles de la Tourette's syndrome, multiple sclerosis, sleep disorders, and dementia. The psychiatric disorders of schizophrenia, mania, depression, aggressive and self-injurious behavior, obsessive compulsive disorder, seasonal affective disorder, substance abuse, hypersexuality, anxiety disorders, bulimia, childhood hyperactivity, and behavioral disorders in geriatric patients have been linked to impaired central 5-HT functions. Tryptophan, the natural amino acid precursor in 5-HT biosynthesis, increases 5-HT synthesis in the brain and, therefore, may stimulate 5-HT release and function. Since it is a natural constituent of the diet, tryptophan should have low toxicity and produce few side effects. Based on these advantages, dietary tryptophan supplementation has been used in the management of neuropsychiatric disorders with variable success. This review summarizes current clinical use of tryptophan supplementation in neuropsychiatric disorders.
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PMID:L-tryptophan in neuropsychiatric disorders: a review. 130 30

Two cases of involuntary movements of the type of segmental dystonia were observed in patients with a history of multiple sclerosis since many years. The reports on dystonic involuntary movements in multiple sclerosis are scant but, together with the present cases, they suggest that dystonia may be a sign of multiple sclerosis, although a rare one.
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PMID:[Dystonia in multiple sclerosis]. 152 58

Despite astounding progress in the biochemical management of Parkinson's disease in particular and of other movement disorders, there are still patients disabled by severe tremor and not by bradykinesia in whom thalamotomy remains the treatment of choice. Though the irreducible complications of surgery must be taken into account, the problems of prolonged multiple drug therapy should not be ignored. The same rationale applies to selected patients with essential or familial tremor. For some patients with ataxic tremor caused by multiple sclerosis and other brain lesions, or with dystonia or, rarely, other movement disorders, thalamotomy may offer limited though significant relief from an otherwise intractable disability. Indications for the use of stereotactic destructive lesions in the treatment of nociceptive pain in those cases where cordotomy and intraspinal morphine infusion are unsuitable have contracted with the introduction of lower-risk alternatives such as intraventricular morphine instillation. When destructive lesions are indicated, the choice will lie between mesencephalic tractotomy, with its higher success rate but irreducible mortality and morbidity, and medial thalamotomy, which, though less risky, is also less effective. For central and deafferentation pain, the same two procedures may be considered. However, destructive lesions are seldom effective for the treatment of the most common element of these pain syndromes: steady burning or dysesthetic pain. They may be more promising, though, for the intermittent, often shooting pain and the evoked elements (hyperpathia and allodynia) of central and deafferentation pain. Even so, it is advisable first to carry out a trial of VC and PVG stimulation before considering a destructive lesion, which should be a last resort.
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PMID:Thalamotomy. 213 73

Cramp syndromes pose a challenge for neuroscientists. The motor disorders of Isaacs syndrome have been ascribed to peripheral neuropathy, and sometimes there is ample supporting evidence of neuropathy. However, signs of overt neuropathy are found in a minority of cases and the essential findings (carpal and pedal spasm, pseudomyotonia and myokymia) may arise from abnormal excitability of the perikaryon because similar manifestations are seen in tetany and multiple sclerosis. The Moersch-Woltman (stiffman) syndrome differs from Isaacs' syndrome in essential characteristics. Hyperventilation syndromes may mimic either simple cramps, the Isaacs syndrome, the Moersch-Woltman syndrome, or the Foley and Denny-Brown syndrome of benign fasciculation and cramps. New approaches are needed to define the etiology and pathogenesis of these neurogenic disorders because the results of peripheral nerve block and spinal anesthesia have not been consistent in cases of typical Isaacs syndrome. Occupational cramps can be regarded as a form of action dystonia but that statement is a clue, not an "explanation". Myopathic disorders are only rarely a cause of cramp syndromes. In the glycogen storage disorders, the chemical basis of the cramp is still unproven. Whether myoadenylate deaminase is a cause of cramps is debated.
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PMID:Cramps, spasms and muscle stiffness. 299 4

In this review, the authors present a critical overview of the historical development, indications, complications, operative techniques, and results of procedures for the alleviation of the major dyskinesias. Emphasis is placed upon recent refinement of technique, particularly stereotaxis, as well as neurophysiologic stimulation and recording, computerized tomographic scanning (CT) and magnetic resonance imaging (MRI). Specific disorders that may be amenable to surgical therapy include spasticity secondary to spinal cord pathology, cerebral palsy, and multiple sclerosis; the tremor and rigidity of Parkinson's disease; essential tremor; dystonia; spasmodic torticollis; post-traumatic and postinfarction intention tremor; cerebral palsy with tremor; hemiballismus; myoclonus; and dyskinesias induced by L-DOPA.
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PMID:Neurosurgical management of spasticity, rigidity, and tremor. 332 80

The clinical features, differential diagnosis and treatment of unilateral spasms of the jaw and masticatory muscles are discussed and illustrated by eight cases of unilateral jaw spasms of various aetiologies. These include focal dystonia of the jaw, hemimasticatory spasm with and without facial hemiatrophy, paroxysmal events in multiple sclerosis and tetany. Attention is particularly drawn to four cases of unilateral dystonia of the jaw which has not been described before.
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PMID:Focal dystonia of the jaw and the differential diagnosis of unilateral jaw and masticatory spasm. 373 21

Lacunar infarcts in the basal ganglia are known to cause various movement disorders, such as chorea, focal dystonia, and hemichorea-hemiballismus. We report here a case of putaminal lacunar infarction which presented with "painful tonic spasms" of the contralateral limbs. This consisted of paroxysmal brief, painful, flexor contractures of the upper, and occasionally the lower limb. These were not focal seizures but were controlled with carbamazepine, which has been used for the "painful tonic spasms" well-associated with multiple sclerosis. The putaminal infarct we describe is probably related to a lupus anticoagulant and systemic lupus erythematosus.
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PMID:Painful tonic spasms caused by putaminal infarction. 381 Jul 37

Immunoreactive vasoactive intestinal peptide (VIP) was measured in lumbar and ventricular cerebrospinal fluid (CSF) from patients with various neurological disorders and in 2 hour aliquots of cisternal fluid removed continuously from rhesus monkeys. Although most of the VIP in concentrated pools of human ventricular fluid and of monkey cisternal fluid co-eluted with synthetic porcine VIP28 on a column of Sephadex G-25 superfine, there was evidence that smaller immunoreactive fragments were also present. A circadian pattern of CSF VIP concentration was observed in 2 of the 3 monkeys studied, with highest levels occurring at night and lowest during the day. Ventricular fluid VIP levels were highest in hydrocephalic children and lowest in patients with multiple sclerosis or epilepsy, while VIP was not detectable in ventricular fluid from patients in coma following a severe head injury. There were no significant differences in VIP concentrations in CSF from patients with dystonia. Parkinson's disease, or Alzheimer's disease, suggesting that VIP containing neurons are not affected in these disorders. Lumbar fluid VIP levels were low in patients undergoing aneurysm surgery. Since VIP is a potent vasodilator, these findings may have important implications in relation to the development of vasospasm following subarachnoid hemorrhage.
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PMID:Vasoactive intestinal peptide in cerebrospinal fluid. 647 66

We studied six patients with clinical and radiographic evidence of rostral brainstem lesion and bilateral blepharospasm. Two patients also had other facial dystonic movements. Four patients suffered rostral brainstem strokes, and two had multiple sclerosis. None had been treated with antipsychotic drugs prior to the onset of blepharospasm. Medical treatment was helpful in two patients, and bilateral selective facial nerve section was used in another patient. Possible pathogenic mechanisms are discussed.
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PMID:Blepharospasm associated with brainstem lesions. 668 64


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