Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH-dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone-sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH-dehydrogenase 4 gene point mutation.
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PMID:Leber's hereditary optic neuropathy and complex I deficiency in muscle. 176 94

The results obtained in a retrospective study on clinical and pharmacological aspects of 41 patients suffering craniocervical dystonia (24 with blepharospasm, 17 with torticollis) and 11 with spasm are here presented. Mean age of symptoms onset was 57.4, 43.8 and 55.8 years old respectively; this variable was comparatively higher in females than in males with torticollis. The prevalence of blepharospasm and hemifacial spasm was higher in females. A 38.7% of patients suffering blepharospasm also presented oromandibular dystonia (Meige's syndrome). Other abnormal movements less frequently associated were cephalic tremor, postural hand tremor and larynx dystonia. In three cases with blepharospasm there was family history of Parkinson's disease and in two cases with torticollis there was family history of essential tremor. The mean age of onset was lower in patients with clonic torticollis and the evolution time of symptoms was longer than in those who presented the tonic type. Clonic torticollis were less frequently associated to pain. Trihexyphenidyl (anticholinergic) was the most efficient drug in craniocervical dystonia, and clonazepam in facial hemispasm. In general, as earliest the age of onset was, as better the therapeutical response was.
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PMID:[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients]. 176 88

An isocentered system for functional stereotactic procedures with the Cosman-Roberts-Wells frame and a CT localizer that allows extrapolation of target data directly from the CT slice is presented. Based on anatomical landmarks and on the scaled corresponding transverse plates of the Schaltenbrand and Wahren atlas, we delineate the thalamic and cerebellar nuclei. Twenty three image-directed functional procedures were performed in one year on 18 patients (7 with Parkinson's disease, 4 with dystonia, 3 persons with essential tremor, 2 patients with choreo-athetosis and 2 with de-afferentiation pain). The 23 procedures included 19 thalamotomies, two dentatotomies and two stereotactic implantations of deep seated brain electrodes. Successful targeting was verified by intra-operative electrical stimulation and postoperative CT scan. Complete reduction of symptoms was observed in 4 persons with Parkinson's disease and in 2 patients with essential tremor with significant improvement observed in the rest of the patients with the exception of the individual with choreo-athetosis. There were no operation-related complications. The reported technique is safer and less distressing for patients than previous radiological procedures and it makes image-directed stereotactic functional neurosurgery available to many units with the CRW frame.
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PMID:Image-directed functional neurosurgery with the Cosman-Roberts-Wells stereotactic instrument. 179 61

Drug-induced and tardive movement disorders represent a large number of extrapyramidal disorders seen in neurologic practice. Iatrogenically induced, most commonly by neuroleptics, these disorders can be characterized by any abnormal body movement including tremor, chorea, athetosis, dyskinesias, dystonia, myoclonus, tics, ballismus or akathisia. Parkinsonism, dyskinesias and dystonia tend to be the most common. Management of patients with drug-induced or tardive syndromes is complex. Prognosis is frequently poor as patients usually need the offending agent to manage their underlying psychiatric or medical problem. Neuroleptics and other drugs known commonly to cause movement disorders should be used cautiously and significant consideration of all risks and benefits measured before initiating therapy.
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PMID:Drug-induced and tardive movement disorders. 183 84

An autopsy case of progressive supranuclear palsy (PSP) associated with central pontine myelinolysis (CPM) is reported. A 73-year-old male patient suffered from gait disturbance for about 5 years. The clinical features were characterized by gradual development of supranuclear ophthalmoplegia, tremor, bradykinesia, rigidity, neck dystonia, dementia and pseudobulbar palsy at the advanced stage of his illness. Treatment with levodopa did not improve his neurological signs and symptoms. PSP or multiple system atrophy was considered as a clinical diagnosis of the patient. He died of pneumonia, acute pancreatitis and liver dysfunction in November 1985. The main neuropathological findings were neuronal loss and gliosis with neurofibrillary tangles of globose type in the globus pallidus, subthalamic nucleus, substantia nigra and dentate nucleus, and at the base of the pons, bilateral and symmetrical demyelination was found. In addition, myelin staining revealed circumscribed pallor in the cerebral white matter. The histologic diagnosis was PSP associated with CPM. An association of PSP with CPM is rare in the elderly and possible etiologic factors of both diseases were discussed.
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PMID:[An autopsy case of progressive supranuclear palsy with central pontine myelinolysis]. 187 Feb 89

MRI scans were obtained from three patients with Wilson's disease, all of whom showed rigidity and dysarthria; two also showed tremor and dystonia. Two had been treated with D-penicillamine for seven and 14 years, respectively and their neurological abnormalities had improved, but the third patient had not been treated. T2-weighted MRI of the mid-brain in all three revealed the characteristic "face of the giant panda" sign, consisting of high signal intensity in the tegmentum except for red nucleus, preservation of signal intensity of the lateral portion of the pars reticulata of the substantia nigra and hypo-intensity of the superior colliculus. The clinical significance of these MRI abnormalities is discussed.
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PMID:Mid-brain pathology of Wilson's disease: MRI analysis of three cases. 189 27

The clinical and electromyographic characteristics of tremor were studied in 45 patients presenting with various forms of idiopathic dystonia. Dystonic tremor was shown to be postural, localized, and irregular in amplitude and periodicity, absent during muscle relaxation, exacerbated by smooth muscle contraction, and associated frequently with myoclonus. Although it resembles essential tremor, dystonic tremor seems to be a distinct entity: it is more irregular with a broader range of frequencies; it is asymmetric and remains localized; myoclonus is sometimes associated. This type of tremor is most often seen in the presence of dystonia, but may be observed without evident dystonic symptoms.
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PMID:Tremor and idiopathic dystonia. 192 28

Of 125 patients with neuroleptic (dopamine blocking) drug-induced movement disorders who had been referred to a specialized clinic to differentiate the predominant movement disorder, 63% had tardive dyskinesia, 30% had parkinsonism, 24% had dystonia, 7% had akathisia, and 2% had isolated tremor. Two or more movement disorders coexisted in 31 patients (25%). Functional disability was more severe in patients with akathisia than in other patients. Women outnumbered men at a ratio of 4:1, except for tardive dystonia which affected both sexes equally. The average at onset was 56 years (range, 13 to 87); 69 patients (55%) had onset of movement disorder in the sixth decade. While tardive dystonia was distributed relatively evenly in all age groups, almost a third of patients with parkinsonism had it in the eighth decade. Haloperidol was implicated in 47 patients (37%), followed by amitriptyline/perphenazine in 30%, thioridazine in 27%, and chlorpromazine in 20%. Metoclopramide-induced movement disorders were found in 10 (8%). Most patients (101 or 81%) had history of psychiatric illnesses, but of these only 44 had psychosis. Neuroleptic drugs had been prescribed for 33 patients (26%) who had gastrointestinal problems. It is important to recognize and differentiate various drug-induced movement disorders because such differentiation has pathophysiologic and therapeutic implications. Many patients could have been treated with less potent drugs.
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PMID:Neurologic approach to drug-induced movement disorders: a study of 125 patients. 197 59

1. Neuroleptic drugs (antipsychotics) produce numerous side effects which include serious extrapyramidal symptoms consisting of akathisia, dystonia, neuroleptic malignant syndrome, parkinsonian reactions such as postural abnormality, tremor, akinesia or bradykinesia, rigidity, and tardive dyskinesia. 2. Among the complications of neuroleptic chemotherapy, the most serious and potentially fatal complication is malignant syndrome, which is characterized by extreme hyperthermia, "lead pipe" skeletal muscle rigidity causing dyspnea, dysphagia, and rhabdomyolysis, autonomic instability, fluctuating consciousness, leukocytosis, and elevated creatine phosphokinase. 3. Neuroleptic malignant syndrome should be differentiated from malignant hyperthermia, lethal catatonia, and other pathological states producing some of these same symptoms. 4. In addition to neuroleptics, malignant syndrome has been caused by thymoleptics (antidepressants), metoclopramide (antiemetic), metoclopramide combined with cimetidine, tetrabenazine, overdosage of benzodiazepine, phenelzine, dothiepin and alcohol, and amphetamine. 5. Factors leading to and/or facilitating the emergence of neuroleptic malignant syndromes are reportedly organic brain syndrome, dehydration, exhaustion, external heat load, excessive sympathetic discharge, use of long acting neuroleptics, high doses of neuroleptics, rapid dose titration with neuroleptics, abrupt discontinuation of antiparkinsonism agents, and concurrent lithium therapy. 6. Although, the pathogenesis of neuroleptic malignant syndrome is not understood completely, a blockade of dopaminergic receptors in the hypothalamus, spinal cord and striatum, an alteration of dopaminergic-serotonergic transmission in the body, an enhanced synthesis and action of prostaglandin E1 and E2, and a modification of calcium-mediated signal transduction in the body have been suggested. 7. The treatment of malignant syndrome includes immediate withdrawal of neuroleptic drugs, i.v. infusion of dantrolene, and oral administration of bromocriptine; or alternatively i.v. infusion of dantrolene and the combination of levodopa-carbidopa. 8. Other measures to enhance the therapeutic effectiveness of the aforementioned regimens are to include the use of anticholinergic drugs such as benztropine to enhance the effectiveness of bromocriptine, of lorazepam if catatonic symptoms persist, or of electroconvulsive therapy (ECT) if psychotic symptoms persist. 9. These treatments, however, must be "active" rather than "passive", in order to avert fatalities and/or unfortunate sequelae from this iatrogenic and incompletely understood disease.
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PMID:Pathogenesis and treatment of neuroleptic malignant syndrome. 197 19

Thirty-five patients with adult-onset idiopathic torticollis were treated by local injections of botulinum A toxin into dystonic cervical muscles. Substantial improvement with respect to reduction and elimination of pain was found in 81 percent, improvement in posture deformity and involuntary spasms in 70 percent, increased range of motion of the neck in 78 percent, reduction in visible sternocleidomastoid hypertrophy in 86 percent, and improvement in tremor in 65 percent. The syndrome was divided into four subtypes based on pattern of dystonic muscle groups involved in the dystonia, head and shoulder posture, and sternocleidomastoid muscle hypertrophy. Injection strategy based on this subdivision is described.
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PMID:Botulinum A toxin for the treatment of adult-onset spasmodic torticollis. 198 21


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