Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 52-year-old patient developed an eye movement disorder first resembling a left internuclear ophthalmoplegia and subsequently a "one-and-a-half syndrome" as the presenting symptoms of ocular myasthenia gravis. No accompanying myasthenic features were present except for the fluctuation in the amplitude of dissociated nystagmus. This patient shows that an oculomotor disorder considered a typical pontine lesion may instead be caused by myasthenia gravis, even in the absence of other clinical and electrophysiologic features of neuromuscular deficit.
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PMID:Ocular myasthenia mimicking a one-and-a-half syndrome. 1172 88

Congenital nystagmus (CN) is an aperiodic oscillatory eye movement disorder. Horizontal rectus tenotomy with simple re-attachment has been proposed as a therapy for CN. This therapy might affect vision and/or eye movements. Another paper deals with improvements in visual acuity. This and the companion paper examine changes in eye movements. In this study, we examined the effect of tenotomy on nystagmus waveforms using wavelet spectral analysis. No common effect was found across the patients on the wavelet spectra of the CN beat, suggesting that tenotomy surgery has no effect, or only a quite small effect, on the waveform structure of CN.
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PMID:Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part I. Wavelet spectral analysis. 1547 82

Neuro-otologic examination is very important in evaluation of balance system. Multiple sclerosis (MS) is the most common chronic, debilitating disease characterized by focal demyelinization that develop throughout of the central nerves system at varying time. Patients with MS presented various complaints and signs, so the aim of the study was the neuro-otologic presentation of multiple findings in patients with MS and comparison with reviewing literature. The study was carried out in 32 patients with MS (21 with relapsing-remitting, 9 with secondary progressive, 1 with primary progressive and 1 with progressive/relapsing types) the mean age was 38 +/- 10 years. Clinical neuro-otologic examinations were performed in all patients paying special attention to eye movement ability. Vertigo as the first symptom was found in 18.8% of patients but up to 68% of patients would complain this symptom at some point of disease. The hearing impairment and tinnitus complains 6.2% patients, optic neuritis 28% patients and double vision 46.9% of them. A few types of eye movement disorder like abnormalities of fixation, gaze-evoked nystagmus, acquired pendular nystagmus and vertical nystagmus in 46.8% patients were observed. The clinical signs of internuclear ophthalmoplegia were noticed in 2 patients. Disturbance in voluntary gaze either in smooth pursuit test (31.3%) and in saccadic test (43.8%) were seen. The multifocal nature of MS explain why this disease are so commonly subject to defect different part of nerve system. Careful neuro-otologic assessment of every patient with MS is necessary to confirm and monitoring the course of disease.
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PMID:[Neuro-otologic findings in multiple sclerosis]. 1635 94

Tectal plate cysts are very rare. We report two adult patients with benign tectal plate cyst and secondary hydrocephalus. The first patient had an unusual eye movement disorder with bilateral upper eyelid retraction (Collier's sign), limited upgaze, severe upgaze evoked nystagmus and retraction nystagmus. The second patient presented with ataxia and failure of upward gaze. Endoscopic fenestration of the tectal plate cyst and endoscopic third ventriculostomy in both cases result in neurological improvement. To the best of our knowledge, similar lesions at this site have not been reported in adults. The differential diagnosis with arachnoid cysts of the quadrigeminal CSF cistern is discussed.
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PMID:Tectal plate cyst in adults. 1652 27

Motor disorders frequently contain a rhythmic component, but the associated oscillations are not usually precisely periodic. This lack of strict periodicity can make it difficult to identify the effects of experimental manipulations on the oscillation. In this report, we describe the application of a numerical technique for identifying fixed points of a nonlinear map to the recovery of underlying periodicities of the eye movement disorder of nystagmus. The technique is illustrated by application to two different types of nystagmus. In addition we use a local analysis of the behaviour at the fixed points to distinguish between different bifurcations in the two examples with changes in gaze angle. We conclude that the technique reveals consistent effects of experimental manipulations, which may be useful for quantitative characterisation of experimental and therapeutic manipulations of motor disorders.
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PMID:Fixed point analysis of nystagmus. 1711 49

Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. It can be associated with a number of ocular or neurological diseases, or it can be inherited in an autosomal or X-linked fashion. The latter form is called idiopathic or motor nystagmus (CIN). Loci on the X chromosome (NYS1) and on 6p12 (NYS2), 7p11.2 (NYS3), and 13q31-q33 (NYS4) have been identified for CIN. The molecular characterization of NYS1 has recently been solved by Tarpey et al., who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus.
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PMID:Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 1739 53

Eye movement disorders are rarely reported in vitamin B12 deficiency. We describe two cases with eye movement disorder and vitamin B12 deficiency; one with bilateral internuclear ophthalmoplegia and the other with downbeat nystagmus. Both of the patients received replacement therapy but their eye movement disorders did not respond to treatment. We also review the nine previously reported cases.
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PMID:Eye movement disorders in vitamin B12 deficiency: two new cases and a review of the literature. 1788 May 72

In dynamical systems, configurations that permit flexible control are also prone to undesirable behavior. We study a bilateral model of the oculomotor pre-motor network that conforms with the neuroanatomical constraint that brainstem neurons project to cerebellar Purkinje cells on both sides, but Purkinje cells project back to brainstem neurons on the same side only. Bifurcation analysis reveals that this network asymmetry enables flexible control by the cerebellum of brainstem network dynamics, but small changes in connection pattern or strength lead to behavior that is unstable, oscillatory, or both. The model produces the full range of waveform types associated with the hereditary eye movement disorder know as congenital nystagmus, and is consistent with findings linking the disorder with abnormal connectivity or limited plasticity in the cerebellum.
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PMID:Bifurcation theory explains waveform variability in a congenital eye movement disorder. 1875 33

Four French West Indian women complained of oscillopsia and were found to have an acquired eye movement disorder. In 3 of them, different types of nystagmus were found, including upbeat, downbeat, and central form of vestibular nystagmus. One developed opsoclonus-myoclonus syndrome. Three patients had neuromyelitis optica antibodies, and 3 had brainstem abnormalities detected on MRI. Two patients had definite NMO, while the other 2 were considered to be at high risk for developing NMO. Treatment with high-dose systemic corticosteroids, with plasma exchanges, or in combination led to resolution of oscillopsia. We propose that eye movement disorders be added to the neurological manifestations of NMO.
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PMID:Ocular oscillations in the neuromyelitis optica spectrum. 2162 30

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.
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PMID:A FRMD7 variant in a Japanese family causes congenital nystagmus. 2708 18


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