Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a new mutation, a G to A transition at nucleotide position 4298 within the mitochondrial tRNA(Ile) gene in a patient with chronic progressive external ophthalmoplegia and multiple sclerosis. The mutation, which alters an evolutionary conserved nucleotide within the anticodon stem, was heteroplasmic in skeletal muscle but was not present in the patient's blood. Single fibre PCR analysis revealed significantly higher levels of the G4298A mutation in cytochrome c oxidase (COX) negative fibres than in COX-positive fibres. This mutation represents the seventh pathogenic nucleotide substitution to be found in this gene and as such confirms the tRNA(Ile) gene as a susceptible "hot spot" for mitochondrial DNA point mutations. Of particular interest is that this patient has the clinical features of both multiple sclerosis and a mitochondrial DNA disorder.
 ...
PMID:A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. 947 77

The eyelid-mounted accelerometer can pick up the acceleration waveform of the eye during horizontal eye movements. The acceleration profile comprises high-amplitude pulsatile activity in the saccade and changes in the level of background ocular microtremor related to eye position. Adducting saccades of 20 degrees were recorded in eight patients with partial internuclear ophthalmoplegias caused by multiple sclerosis and in eight age-matched healthy subjects. The initial pulse of acceleration activity was reduced by 85% in the patients. In the worst-affected cases, adducting saccades were associated only with an increase in the level of background ocular microtremor in the acceleration trace. The results confirm the hypothesis that an internuclear ophthalmoplegia is due to the loss of the pulse signal to ocular motor neurons, with preservation of the step signal in an adducting saccade.
 ...
PMID:A new clinical technique for demonstrating changes in eye acceleration during horizontal saccades in patients with partial internuclear ophthalmoplegias. 953 38

A 28-year-old male patient in good health with no previous neurologic or ophthalmoscopic abnormalities developed right homonymous hemianopsia. Magnetic resonance (MR) imaging demonstrated bilateral high-signal suprageniculate lesions. The lesion located in the left parieto-occipital area was compatible with the field defect observed. Oligoclonal bands were present in the cerebrospinal fluid. Testing of visual-evoked potentials revealed increased latencies in both eyes. The patient was given 1 g/day intravenous methylprednisolone for 3 days. The visual fields, as determined by automated static perimetry, recovered completely in 2 weeks. Follow-up MR imaging at 1 month showed no change compared to baseline. Seven months after the initial attack he suffered right internuclear ophthalmoplegia, which resolved spontaneously within 1 week. Based on the clinical and radiologic findings, the final diagnosis was made as clinically definite multiple sclerosis (MS). This patient represents a rare case of MS presenting first with homonymous hemianopsia.
 ...
PMID:Homonymous hemianopsia as the initial manifestation of multiple sclerosis. 956 3

We report five cases of multiple sclerosis (MS) and three cases of allied demyelinative diseases starting during childhood. Three of the MS patients presented with atypical initial symptoms, such as acute encephalitis or myelitis, making an early clinical diagnosis difficult. Ophthalmologic symptoms were noted in four of MS children, and in two with allied demyelinative diseases. Therefore, if a child shows ophthalmologic symptoms (i.e. optic neuritis, ophthalmoplegia), brain magnetic resonance imaging (MRI) should be conducted for the differential diagnosis of MS and other demyelinative diseases. Cerebrospinal fluid analysis is not useful for the initial diagnosis of MS, because pleocytosis and increase of oligoclonal IgG band in cerebrospinal fluid are seen in both MS and other demyelinative disorders. However, neuron specific enolase (NSE) is slightly higher in the latter than in the former. T2-weighted MRI of multiple sclerosis showed multiple high intensity areas in the white matter of the cerebrum and cerebellum, capsula interna, and crus cerebri etc. Most of these lesions were clinically silent, being characteristic of MS. In two MS cases, however, initial MRI revealed no abnormal findings. Thus, the diagnosis of MS can not be made by initial MRI only.
 ...
PMID:[Childhood multiple sclerosis and allied demyelinative diseases]. 1002 34

Internuclear ophthalmoplegia (INO) is a common sign of multiple sclerosis in young patients and of vascular diseases in older people. Traumatic bilateral internuclear ophthalmoplegia following severe head injuries may occur. We present the unusual case of a young patient suffered from bilateral INO as an isolated finding after a minor head injury, without other signs of brain stem or cortical injury. The ophthalmoplegia has persisted for 22 months.
 ...
PMID:Internuclear ophthalmoplegia following minor head injury: a case report. 1007 Apr 36

Forty five patients of multiple sclerosis diagnosed on the basis of Poser's criteria from West Bengal were studied. The male-female ratio was 1:1.5, mean age of onset 31.83 years in male and 29.11 years in females. The maximum cases were between the 3rd and 4th decade. Definite MS comprised of 60%, while remaining 40% were probable. Visual impairment (53.33%), weakness of limbs (31.11%) and sensory paraesthesia (20%) were the common presenting symptoms whereas pyramidal tract involvement (93.33%) with absent abdominal reflexes (90%) and optic pallor (64.44%) were common signs. Posterior column and spinothalamic sensations were involved in 55% and 51% of cases respectively. Inter-nuclear ophthalmoplegia was present in 6.66% of cases. Pattern of involvement commonly showed three or more sites of lesion. Optico-spinal affection was present in 22.2% of cases. Relapsing and remitting course was found in 48. 91%, relapsing and progressive course in 33.33% and chronic progressive in 17.8%. MRI of brain showed positive results in 16 out of 23 cases. CSF study showed increased positivity in estimation of immunoglobulin level than oligoclonal band. Findings revalidate the disease pattern as being similar to that in other parts of India as well as Asia.
 ...
PMID:Clinical profile of multiple sclerosis in Bengal. 1033 3

The patient is a 72-year-old man who had tonsillitis and underwent incision on March 6, 1998. He complained headache and nausea from March 10 and double vision from March 12. He was admitted to our hospital on March 14. Neurological examination on March 18 revealed bilateral internuclear ophthalmoplegia with exotropia (WEBINO), bilateral ptosis and disturbance of convergence. Lumbar puncture revealed moderately elevated protein (46 mg/dl) with normal pressure and cells. The T2-weighted images of head MRI showed multiple high intensity lesions in anterior commissure and right pons. After he was treated with methylprednisolone, his headache and ptosis disappeared. The lesion in anterior commissure on MRI disappeared also. But WEBINO remained at the time of discharge. WEBINO syndrome is caused by lesion of pons and midbrain. The most common cause of bilateral internuclear ophthalmoplegia is multiple sclerosis in the European and American countries, but the frequency of vascular origin is higher in Japan than in the European and American countries. All the cases of WEBINO syndrome reported in Japan are vascular origin. This is the first case of WEBINO syndrome not of vascular origin.
 ...
PMID:[A case of post-infectious wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome]. 1042 55

The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits.
 ...
PMID:One-and-a-half syndrome in pontine infarcts: MRI correlates. 1052 68

Internuclear ophthalmoplegia is usually caused by multiple sclerosis, tumors, or vascular lesions of the brain stem. We report a patient with Wernicke syndrome who presented with a right-sided internuclear ophthalmoplegia. He recovered completely with intravenous thiamine (vitamin B1). There were no lesions in the magnetic resonance image (MRI) of the brain, suggesting a derangement at the cellular level as the cause.
 ...
PMID:Unilateral internuclear ophthalmoplegia and recovery with thiamine in Wernicke syndrome. 1106 54

Two women presented with bilateral internuclear ophthalmoplegia evolving in a few days to complete bilateral horizontal gaze paralysis. Convergence and vertical eye movements were normal. Cerebral MRI showed a few small white matter lesions in the lateral ventricle regions, and, at the brainstem level, a single, small, bilateral lesion affecting the posterior part of the medial pontine tegmentum and responsible for the clinical syndrome. The condition gradually improved in both patients, following a similar progression as at the onset: improvement first involved the adduction movements in both eyes, whereas bilateral abduction paresis still persisted for a few weeks, before complete recovery of eye movements. Bilateral damage to the medial longitudinal fasciculus and subsequent lateral extent of damage to the region of the two abducens emerging fibres may explain the clinical findings. In both cases, the cause was probably multiple sclerosis.
 ...
PMID:Complete bilateral horizontal gaze paralysis disclosing multiple sclerosis. 1116 Apr 80


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>