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)

Oculomotor disorders have been considered to be one of the negative symptoms in motor neuron disease (MND). However, recently, ophthalmoplegia, abnormal Bell's phenomenon and disturbance of pursuit movement have been reported. We tried to evaluate 32 patients with MND (19 males and 13 females; age, 35 to 77 years; 52.4 +/- 10.1 years) by bedside examination and electro-oculography (EOG) using an eye tracking method. Twenty-three of them were classified as amyotrophic lateral sclerosis (ALS) and seven as bulbospinal muscular atrophy, and two were unclassified. One hundred healthy persons for bedside examination and twenty-two for EOG were investigated as controls. Findings by bedside examinations were as follows; 1) Slight limitations of upward only, up & downward and upward & horizontal gaze were observed in 5 cases (15.6%), 1 case (3.1%) and 1 case (3.1%), respectively. 2) Incomplete convergence was observed in 11 cases. (34.4%) 3) Horizontal gaze nystagmus was observed in 6 cases. (18.8%) 4) As regards the frequency of limitation of upward gaze and incomplete convergence, there were no statistically significant differences from those in controls. Electrooculographic results were: 1) square wave jerks (SWJs) were recorded in 3 cases. (9.4%) 2) Amplitude ratio of saccade was significantly higher in MND than that in controls with the risk less than 0.1%. 3) The degree of ocular dysmetria was significantly higher in MND than that in controls with the risk less than 0.5%. These abnormalities were not directly related to suffering period. Although the mechanism is not known, several reports of the effectiveness of thyrotropin releasing hormone (TRH) in ALS were recently published.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of oculomotor disorders in motor neuron disease]. 251 55

We found abnormal supranuclear ocular or lid motility in all of 37 patients with Lytico-Bodig (amyotrophic lateral sclerosis/parkinsonism-dementia complex). Twenty-one patients had pursuit paresis, 18 abnormal vestibulo-ocular reflex (VOR) cancellation, 15 abnormal convergence, 13 abnormal optokinetic nystagmus (OKN), 12 conjugate gaze limitation, nine nystagmus, nine saccadic paresis, and six abnormal fixation. Lid abnormalities included glabellar hyperreflexia in 21, involuntary levator inhibition in three, and blepharospasm in two. Earlier reports have indicated infrequent ocular disturbances in Lytico-Bodig, but we now find supranuclear eye and lid deficits are universal and sometimes very prominent.
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PMID:Supranuclear disturbances of ocular motility in Lytico-Bodig. 319 62

Neurotological examinations with special regard to eye movements using electronystagmography (ENG) were performed and analyzed on 22 patients with amyotrophic lateral sclerosis (ALS). Optokinetic nystagmus, pursuit and saccadic eye movements were abnormal in a considerable number of the patients. The incidence of abnormalities correlated to the severity, but not to the duration of illness. The mechanisms of abnormalities of eye movements were considered initially supranuclear, and later both supranuclear and nuclear involvements would play main roles in the appearance of the abnormalities of eye movements.
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PMID:Neurotological findings in amyotrophic lateral sclerosis. 382 51

Remarkable progress has been achieved in the neurophysiological study of the cerebellum. Based on these neurophysiological data, electronystagmographic (ENG) assessment of cerebellar lesions was made to ascertain to what extent cerebellar lesions could be diagnosed. In 13 patients out of 17 whose lesions were mainly localized on one side through CT, cerebellar lesions could be diagnosed by electronystagmographic findings. In the 1 patient with amyotrophic lateral sclerosis of the remaining 4, asymptomatic cerebellar infarction was detected unexpectedly through CT. In the remaining 3 patients, differential diagnosis from brainstem lesions was difficult to evaluate on the basis of ENG findings. In 13 patients showing cerebellar signs and symptoms, pursuit eye movements, optokinetic nystagmus (OKN), and fixation-suppression of caloric nystagmus were impaired on both sides, suggesting large mass effects upon the bilateral brainstem. However, either rebound nystagmus or opposing positioning nystagmus characteristic of cerebellar lesions was detected in 13 patients (81%). The same was true in patients with bilateral cerebellar lesions. ENG test, however, could not detect any patients who showed neither cerebellar signs nor symptoms. Further investigations are needed to supplement the gap between basic and clinical research.
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PMID:Electronystagmographic assessment of cerebellar lesions. 382 55

Two patients with amyotrophic lateral sclerosis proved postmortem had nystagmus in addition to typical clinical signs of motor neuron disease. The first patient had gaze-evoked rotatory nystagmus that was followed by horizontal nystagmus in the primary position with supranuclear paresis of horizontal gaze and upgaze. The second patient had rotatory nystagmus that was evoked by lateral gaze, with normal range of eye movements. Nystagmus is so rare in motor neuron disease that these observations may imply another disease, but postmortem examination did not provide any other explanation. These two cases add to the increasing evidence that motor neuron disease comprises a heterogeneous group of disorders.
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PMID:Nystagmus in motor neuron disease: clinicopathological study of two cases. 646 63

It has generally been assumed that the oculomotor system is not involved in amyotrophic lateral sclerosis (ALS). However, reports from the literature and recent experience with patients indicate that there are oculomotor abnormalities in some ALS patients. These appear to fall into two main categories. One group of patients has signs that reflect damage or degeneration in cortico-oculomotor pathways. These patients have problems in generating voluntary saccades, convergence and pursuit eye movements. It should be possible to corroborate deficits in ocular pursuit in these patients with deficits in visual suppression of the vestibulo-ocular reflex (VOR) and in optokinetic nystagmus (OKN). A second group of patients, much less common than the first, has a more global type of ophthalmoplegia, probably reflecting a loss of neurons in and around the ocular motor nuclei. There are probably also patients with mixed types of involvement. Testing the vestibulo-ocular reflex (VOR) in conjunction with other tests of visual-oculomotor function should help in identifying the deficits. The relative incidence of the various types of deficits is not known and is a subject for study. It would also be of interest to correlate the changes that are present in the oculomotor system of patients with ALS with deficits in other parts of the somatic motor system.
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PMID:Eye movements in amyotrophic lateral sclerosis. 658 14

Defective pursuit eye movements were recorded by electrooculography (EOG) in 11 of 18 patients (61%) with amyotrophic lateral sclerosis. Pursuit defects consisted of a breakdown of smooth tracking into saccadic motions that were grossly in excess (frequencies and amplitudes) of saccadic interruptions of pursuit in normal subjects. In nine patients, defective pursuits cogwheeling) were obvious by visual inspection as well as by EOG; in two, this abnormality was seen only by EOG. In eight patients, the pursuit defect was the only abnormality of oculomotor function; in three, there were also saccadic defects (optokinetic nystagmus or conjugate gaze) discerned by EOG. Autopsy revealed neuronal degeneration in substantia nigra and demyelination in integral capsule in one patient with the pursuit defect but not in another patient without the defect. The pursuit defect may be a sign of extrapyramidal or supratentorial pyramidal involvement in ALS.
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PMID:An eye movement disorder in amyotrophic lateral sclerosis. 720 38

Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of clinically unsuspected lesions was revealed by BAER abnormalities in 7.4%. Thirty-five percent of the patients who had nystagmus and 53% of those who had internuclear ophthalmoplegia at the time of testing had BAER abnormalities. Forty-five percent of the abnormalities were elicited with stimulation of one ear only, stressing the importance of monaural stimulation. Click rates faster than 10 per second did not reveal abnormalities undetected at slower rates. BAERs were normal by these criteria in patients with labyrinthine diseases and amyotrophic lateral sclerosis. Thus, the BAER in MS can (1) confirm the presence of central lesions in patients with suspected brainstem involvement, (2) document the presence of clinically unsuspected lesions, and (3) be followed over time to provide possible assistance in evaluating the effectiveness of therapeutic measures. The BAER is a useful tool in the diagnosis and management of MS.
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PMID:Brainstem auditory evoked responses in 200 patients with multiple sclerosis. 736 20

It has long been known that the oculomotor system is not involved in amyotrophic lateral sclerosis (ALS). In early stages. Some authors suggest oculomotor abnormalities in some patients. In the present study, quantitative analysis of ocular movements including smooth pursuit eye movements, optokinetic nystagmus (OKN), visual suppression of vestibular nystagmus (VS), and horizontal saccades were investigated in 9 patients with ALS. These patients were neurologically diagnosed as having ALS in the early stage. The results were as follows: The velocity of saccade was markedly reduced in 4 patients. In addition, there were abnormalities of smooth pursuit (one patient), OKN (one patient) and visual suppression (2 patients). Furthermore, these abnormalities were observed more often in patients with bulbar signs. In conclusion, the results suggest a existence of ocular abnormalities in ALS, even at early stages.
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PMID:Ocular abnormalities in amyotrophic lateral sclerosis. 820 16

Two brothers with slowly progressive weakness and congenital nystagmus are presented. DNA analysis confirmed X-linked recessive bulbospinal muscular atrophy (XBSMA, Kennedy's disease) by demonstration of increased size of a CAG-triplet repeat on the androgen receptor gene on the X-chromosome. XBSMA is characterized by almost symmetrical muscular atrophy, weakness and fasciculations predominantly of bulbar, facial and proximal muscles of the extremities, with onset in the third to fifth decade. Tendon reflexes are depressed and pyramidal signs are absent. Sensory symptoms are clinically rare, but sensory nerve action potentials are frequently abnormal. Additional symptoms are important for differential diagnosis, and include postural tremor, gynecomastia, diabetes mellitus, testicular atrophy and impotence. Differentiation of this hereditary disorder from treatable conditions such as multifocal motor neuropathy or amyotrophic lateral sclerosis is essential. Though life expectancy is normal, patients become disabled in the course of the disease and need supportive care. Periodic testing for diabetes is recommended, and genetic counseling should be provided for patients and their relatives.
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PMID:[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)]. 964 48


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