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)

Electronystagmography (ENG) is a technique for recording nystagmus and other eye movements; our technique, based on the utilization of a bioelectrical potential which exists between the retina and the cornea, has been reported in detail elsewhere in a monograph [29]. ENG has been used particularly by otologists to record caloric nystagmus and study labyrinthine function [2, 4, 16, 19]. This technique should have even greater applications in the diagnosis of neurological disease, since nystagmus and abnormalities of ocular and vestibular functions are symptoms frequently encountered by the neurologist. This paper illustrates this point with three case reports.
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PMID:Electronystagmography in neurological diagnosis. 51 53

Four members of a family with an autosomal dominant form of cerebellar degeneration all had slow eye-movements, i.e. slow pursuit with absence of both nystagmus and rapid saccadic movements. Three showed progressive mental deterioration. One patient had nevus of Ota (oculodermal melanocytosis) and a history of grand mal epilepsy. In these four patients the symptoms first occurred between the ages of 10 and 31 years--the onset apparently appearing earlier with successive generations. Current studies implicate a brain-stem lesion of the paramedian pontine reticular formation in the pathogenesis of the oculomotor abnormality. The possibility of a neurocutaneous syndrome, specifically a 'melanophakomatosis', in the patient with seizures and nevus of Ota is discussed; however, absence of these findings in other affected relatives makes a fortuitous association more probable. The literature on nevus of Ota associated with neurological disease is considered.
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PMID:Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of ota (oculo-dermal melanocytosis). 93 51

A girl aged 8 years and 10 months at death had shown signs of a slowly progressive neurological disease with onset in early infancy. The main clinical features were nystagmus, spastic paraplegia, amd mental deterioration. Pathological examination of the brain showed severe demyelination with perivascular preservation of mylein islands, presenting a tigroid pattern. The patient is the second case of classical Pelizaeus-Merzbacher's disease in Japan proven by autopsy.
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PMID:An autopsy case of classical Pelizaeus-Merzbacher's disease. 113 35

An optical device that produces partial stabilization of retinal images has been described. It consists of a high-plus spectacle lens used in combination with a large, high-minus, polymethyl methacrylate (PMMA) contact lens. This device is designed to provide more clear and stable vision in patients with acquired nystagmus due to neurological disease. We report success in using a smaller, rigid, gas permeable (RGP) contact lens that achieves the required degree of stabilization, but is more comfortable for patients than the PMMA contact lens originally described. We have confirmed that the degree of retinal image stabilization is similar to that achieved with the PMMA lens. We present a case report to illustrate its use.
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PMID:Refinement of an optical device that stabilizes vision in patients with nystagmus. 164 Dec 26

Unlike acquired oculomotor nerve palsy in childhood, the congenital form is usually considered to be an isolated disorder, not associated with other neurologic or systemic disease. In a series of 14 patients with this diagnosis, 10 had associated neurologic disorders. Clinical-neuroradiologic correlation identified the brainstem as the site of the lesion in some patients. The ipsilateral pupil was involved in 12 patients and was miotic with a trace or no reaction to light on the side of the palsy in 8 of the 12 patients. In two of these eight patients, the pupil was documented to be dilated and fixed in early infancy and subsequently became miotic at several months of age, concurrent with emergence of other signs of aberrant reinnervation. Pupillary miosis as a result of aberrant reinnervation appears to be much more frequent after congenital than acquired pupillary-involving oculomotor palsy. Four patients showed better visual acuity in the paretic eye, an unexpected finding. The paretic eye appeared to have a fixational advantage if the patient had nystagmus, presumably due to asymmetric dampening of the nystagmus. Significant anisometropia and astigmatic errors in the paretic eye were present in essentially all patients.
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PMID:Associated neurologic and ophthalmologic findings in congenital oculomotor nerve palsy. 206 5

Head nodding (to-and-fro turning about the vertical cervical axis) associated with abnormal eye movements may be seen in spasmus nutans and congenital nystagmus. In the absence of abnormal eye movements, it may be indicative of neurological disease (eg, cerebellar disease, basal ganglia dysfunction). We report a neurologically normal infant without nystagmus but with intermittent head nodding and intermittent esotropia, whose head movements manifested only when his eyes were straight. The head movements ceased with the occlusion of either eye or spontaneous onset of esotropia. When his head was forcibly stabilized, he immediately developed esotropia. The head movement presumably facilitated fusion, although the mechanism of action is unknown.
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PMID:Head nodding associated with intermittent esotropia. 224 38

We report 10 patients with primary hypoparathyroidism. Age at onset varied from 7 months to 52 years (mean 28); 7 were female. Diagnosis was established at a mean of 4.1 years after the appearance of clinical manifestations. Unexplained hypocalcemia (mean 5.3 mg/dl) and hyperphosphatemia (mean 6.4 mg/dl) were present in all patients. Prevalent symptoms included tetany (9 patients), seizures (5) and hypocalcemic cataracts (4). Clinical manifestations may be grouped into 5 types 1) tetany; 2) seizures; 3) other neurologic disorders (basal ganglia calcification, pseudotumor of the brain, ataxia, nystagmus, hypertonus, paresis); 4) disorders of the lens including fully developed cataracts and 5) skin alterations like psoriasis and others. Some of these run on acute course (seizures, tetany), others a subacute one (skin alterations) while others are rather chronic (cataract and other neurologic disorders). Seizures and electroencephalographic disorders predominate in younger patients while tetany is more prevalent in older subjects.
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PMID:[Idiopathic hypoparathyroidism, a syndrome with various clinical expressions: analysis of 10 cases]. 251 14

The clinical and pathological features of 19 neonatal Holstein-Friesian calves affected with moderate to severe neurological disease are presented. Most calves were recumbent from birth, and many developed variable neurological signs including hyperaesthesia or depression, limb extension, head tremor, nystagmus, apparent blindness, and opisthotonos when stimulated. Consistent lesions of moderate to severe, diffuse, axonal swelling and loss, with Wallerian-type degeneration and myelin depletion in the spinal cord and brainstem, and occasionally in the midbrain and peripheral nerve roots, were observed. The lesions indicated a pre-natal insult affecting mainly motor areas of the foetal neuraxis, however the aetiology of the disorder remains undetermined. It is suggested that the calves may have been affected by a hitherto unrecognised disease entity for which we propose the term, degenerative axonopathy.
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PMID:Neurological disease associated with degenerative axonopathy of neonatal Holstein-Friesian calves. 273 93

Quantitated automated electro-oculographic data from 45 parkinsonian patients were compared with those from 30 normal control subjects. Patients were selected with idiopathic Parkinson's disease without other associated neurological disease or dementia; 20 had never received antiparkinsonian drugs and in 25 such treatment had been stopped for at least 2 days. Saccade latency, amplitude and peak velocity, smooth pursuit peak velocity, optokinetic nystagmus (OKN) maximal and mean velocities and vestibulo-ocular reflex (VOR) suppression by vision or imagination were significantly altered in patients, whereas VOR gain in darkness was normal. Alterations of saccade latency and smooth pursuit peak velocity were more severe in the more advanced stages of the disease and saccade latency directed towards the symptomatic side was slightly delayed in hemiparkinsonian patients. Saccade amplitude improved 90 min after a single oral dose of L-DOPA. These results suggest a possible dopaminergic control of some ocular movements.
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PMID:Abnormal ocular movements in Parkinson's disease. Evidence for involvement of dopaminergic systems. 280 11

Monozygotic twin sisters were afflicted by a chronic progressive neurological disease characterized by slurred speech, nystagmus and oculogyral spasms as well as further extrapyramidal and lower motor neuron abnormalities. At autopsy severe loss of nigral and craniospinal motor neurons was noted. In the nuclei of most nerve cell types of the central and peripheral nervous system, roundish inclusion bodies of 3 to 10 microns in diameter were found. Ocular pathology revealed the presence of identical inclusion bodies in the ganglion cells and ganglion cell loss in the posterior retina. Retinal astrocytosis and loss of myelinated axons of the optic nerve were interpreted as reactive features. No inclusions were found in the retinal pigment epithelium. Careful neuro-ophthalmological studies of the first-degree relatives revealed low b-wave of the ERG with other slight aberrations. These were assumed to represent either a carrier or a subclinical state of this presumably inherited disorder.
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PMID:Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. 302 34


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