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 examined six children between 12 and 55 months after an initial shaking injury to determine whether visually significant retinal abnormalities persisted, despite clearing of intraocular hemorrhage. In two children (age 21 months and 6.7 years at follow-up), visual acuity was reduced due to macular folds occurring in the region of previous large subhyaloid hemorrhages. A third child (age 3.2 years) had a midperipheral lacunar defect of the retinal pigment epithelium which was not visually significant. Cerebral injury was responsible for an apparent profound visual loss in three children. Our findings indicate that both macular folds and cortical injury are functionally significant complications of the shaken baby syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Late ophthalmic manifestations of the shaken baby syndrome. 208 46

The role of the floating eye model in the organization of situating and producing eye micromovements was studied. There is presented a hydromechanical model of orthophoria of latent and obvious squint. It is shown that the multiformity of obvious squint depends on the variety of combinations of nonuniform forces in the right eye aparting from the left one, which is the result of nonuniform deviations of both eyes from the norm, and heterophoria is the result of combinations of uniform forces aparting and of analogous deviations of both eyes form. It is shown that the concomittant squint is caused by the existence of different polar heterophoria at both eyes, and their multiformity is the result of their various combinations. The essential necessity of the eye floating for the organization of micromovements--eye tremor and drift is established. It is shown that the eye tremor which takes place under incomplete tetanus of the musole is possible only at optimal equilibrium of the eye and absence of friction they both are at floating. The non-muscle moving character of the eye drift is revealed. It proceeds under the influence of hydromechanical forces of aparting and nonequilibrated gravity of the cornea as a result of weakening of the eye movement muscle under fixation. The cause of the optic, axis divergence (OA) with optic line (OL) and the necessity with it of postnatal development of the eye dioptrics under active influence of the motor apparatus was discovered. Physiology of the eye floating, new conclusions and a hypothesis concerning the model are discussed.
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PMID:[Functional significance of a floating eye model]. 276 74

Three placebo-controlled double-blind and crossover trials were carried out to analyze the effects of oral yohimbine (YOH) 0.8 mg/kg on mood and performance in 16 healthy students. Subjective assessments (visual analogue scales, side-effects on questionnaire) and objective measurements (digit symbols, flicker fusion, tapping, heterophoria) were done at baseline, and post treatment. YOH shifted the healthy subjects' mood towards feeling panicked, elevated systolic blood pressure and plasma prolactin concentrations, reduced digit symbol substitution, and induced drowsiness and passiveness. Caffeine (CAF) 10 mg/kg raised plasma cortisol and rendered the subjects slightly panicked. Muzziness, clumsiness, tremor, chills and nausea were common after both YOH and CAF. Diazepam (DZ) 0.3 mg/kg given at 60 min antagonized some effects of CAF but failed to antagonize YOH. Clonidine (CLO) 100 micrograms counteracted YOH effects on blood pressure but less the subjective and hormonal effects. CLO 200 micrograms partly antagonized the pressor, sedative but not the hormonal responses of YOH. DZ counteracted YOH effects on plasma cortisol on panic but not on other subjective measures or plasma prolactin. Since CLO did not abolish YOH-induced prolactin increase, it is suggested that these effects of YOH are mediated not only via adrenergic alpha 2-receptors; other mechanisms made important contributions.
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PMID:Anxiogenic effect of yohimbine in healthy subjects: comparison with caffeine and antagonism by clonidine and diazepam. 315 10

The clinical features of congenital nystagmus (CN) were studied statistically in 106 cases of CN. The point of the nystagmus at which the patients could best see the targets was detected in some patients. The effects of superior colliculectomy on their visual disturbance and the mechanism will be discussed. The study population comprises 106 patients, 79 males and 27 females, aged from one to 64 (mean 19.4 years). Patients with jerky type classified on ENG were found in 53 cases (50%), pendular type in 39 cases (37%), and mixed type in 14 cases (13%). Patients with jerky type showed significantly good visual acuity (mean 0.69 +/- 0.31, p less than 0.005). They showed significant abnormalities during pregnancy and delivery (p less than 0.01) and had a neutral point (p less than 0.01). Patients with pendular type, on the other hand, showed poor visual acuity (mean 0.26 +/- 0.30) and had significant frequency of family history (p less than 0.05), head tremor (p less than 0.01) and strabismus (p less than 0.01). Thirteen cases (12%) had ocular diseases which involved the retina, cornea and optic nerve. Visual function was elaborated on such parameters of ENG as perception, peak variation and plateau time. Perception, which means the ability to detect the dim flashes during the appearance of the nystagmus, was manifested by pushing a button when patients could detect flashes presented at random on the screen. At the turning point from the quick phase to the slow phase, the detection was executed most successfully. It is thought that in CN, a target is usually gazed upon at a point, changing the direction from the quick phase to the slow phase.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A study of visual function in congenital nystagmus--mechanism of visual improvement after stereotactic superior colliculectomy]. 319 Sep 32

We report about 8 patients all showing a nystagmus rotatorius or giratoire and differences of the horizontal component. In syndromes of the nervous system monocular nystagmus was combined with a scew-deviation or tremor of the lids. Similar to the syndromes of the fasciculus longitudinalis posterior defects in smooth or quick movements on both sides were different. After operation of a congenital cataract a vertical nystagmus was transformed in a nystagmus latens. In congenital squint syndromes monocular vertical nystagmus may be seen if one eye or both are closed. Separate pathways from the vestibular system only lead to the vertical-moving muscles of one eye.
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PMID:[Right-left differences in nystagmus direction. Observations in congenital and acquired ophthalmoneurologic syndromes]. 651 78

Local injections of botulinum toxin is a well-accepted treatment for focal dystonias, hemifacial spasms and strabismus. Its use by skilled neurologists has been reported to be safe and effective. We report our experience with botulinum toxin injections in 108 patients with various central nervous system disorders. Botox was effective in upper face dystonia (86% improvement), spastic dysphonia (92% improvement), platysma muscle spasms and spasmodic torticollis (range of movement 61%, pain and tension 90%). It was also very effective in a few patients with apraxia of eyelid opening, parkinsonian jaw tremor, teeth clenching, palatal myoclonus and adductor leg spasticity. No serious side effects were recorded. Botulinum toxin is a useful symptomatic treatment for many neurological disorders, and one of the leading mode of treatments in the new subspecialty in neurology called "Interventional neurology."
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PMID:Interventional neurology: botulinum toxin as a potent symptomatic treatment in neurology. 798 70

Eye movement abnormalities consisting of poor or absent smooth pursuit and vestibulo-ocular reflex suppression, gaze-paretic and rebound nystagmus, slow build-up of optokinetic nystagmus, mildly hyperactive vestibulo-ocular reflex, and a high incidence of strabismus were inherited in an autosomal dominant fashion in 10 members of a non-consanguineous English caucasian family. The onset was in early childhood, but was not congenital. In 7 cases there was no tremor, dizziness, consistent ataxia, or other cerebellar signs that are often associated with these ocular motor deficits, and apart from strabismus, patients were asymptomatic. Magnetic resonance imaging of the propositus was normal. After childhood there appears to be no progression, with the oldest affected member being 40 years. Two members had been prone to falling in childhood, and one admitted to dizziness when tired. This condition, which is probably benign, has not been previously described and may represent a very mild variant of episodic ataxia or a new vestibulocerebellar syndrome.
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PMID:Eye movements in a familial vestibulocerebellar disorder. 835 16

Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 1/2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T2-weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced.
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PMID:Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. 1151 Sep 39

The botulinum A toxin inhibits the release of acethylcoline from the vesicles of presynaptic neuronal end plates. Its effect is a transient pharmacological neurectomy. The toxin is used more and more widespreadingly. It selectively inhibits certain muscles or groups of muscles. Its use is of outstanding importance in the treatment of blepharospasm, a disease possibly causing transient functional blindness. This blindness develops randomly, with undetermined duration, therefore it may even threaten the life of the patient. There is no alternative treatment. In ophthalmology, the toxin is used in the therapy of strabismus and nystagmus, as well as replacing entropion operations. Most often its use is suggested in the treatment of focal dystonies, dysphonia, tremor palatinus, dysphagia, spasm of the oesophagus sphincter muscle, nasal hypersecretion, hemifacial spasm, headaches, focal hyperhydrosis, proctalgia fugax, diabetic gastroparesis and difficulties in urination. In the past few years, the toxin has been used for esthetic reasons as well. By relaxing the muscles causing wrinkles, non-permanent result may be reached with its use. The botulinum A toxin does not have general side effects. As local side effects, haematomas and unwanted, transient paresis of the neighboring muscles can be mentioned.
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PMID:[Applications of the botulinum A toxin]. 1278 36

We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation.
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PMID:Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. 1284 12


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