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

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

Ophthalmoplegia and dementia are not usually observed in patients with amyotrophic lateral sclerosis. We report the case of a 60-year-old female with ophthalmoplegia and frontal-type dementia which appeared at an early stage of her illness that presented with dysarthria and weakness in the upper extremities. Notable autopsy findings in the central nervous system were, in addition to the degeneration of upper and lower motor neurons, moderate neuronal loss and spongy degeneration in layer II of the frontal cortex with prominent astrocytosis, and moderate neuronal loss with astrocytosis in both the substantia nigra and the red nucleus. Central chromatolysis of a few neurons in the oculomotor nucleus was seen. This case is considered to be a new subtype of motor neuron disease.
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PMID:Motor neuron disease with dementia and ophthalmoplegia. A clinical and pathological study. 853 Sep 84

The substantia nigra was examined immunohistochemically using the antibody to tyrosine hydroxylase in 15 patients with sporadic amyotrophic lateral sclerosis (ALS). The number of dopaminergic neurons was diminished in the substantia nigra of seven cases. The diminution was not related to the age, duration of the illness or use of respirators. Supranuclear ophthalmoplegia developed in four and dementia in three out of seven patients with reduction of nigral dopaminergic neurons. In addition, five out of the seven patients developed respiratory failure within 2 years after the onset of the illness. The nigral dopaminergic system may be involved in rapidly progressive ALS patients with supranuclear ophthalmoplegia and/or dementia.
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PMID:Diminution of dopaminergic neurons in the substantia nigra of sporadic amyotrophic lateral sclerosis. 790 81

The present paper concerns the clinicopathological study of two patients with sporadic amyotrophic lateral sclerosis (ALS) with 21 or 22 years' clinical course without respirators. The two cases developed marked upper motor neuron signs and continually progressive paralysis. Involvement of the facial and bulbar muscles remained fairly mild. At autopsy, the anterior horns showed marked loss of motor neurons associated with numerous reactive astrocytes. On the other hand, the motor cortex and the pyramidal tract showed diminution of Betz cells and large myelinated fibers but no positive materials by fat stain. In addition, the anterolateral funiculi of the spinal cords revealed widespread myelin pallor. One of the case showed intracytoplasmic eosinophilic inclusions in some neurons of the medullary reticular formation. Recent articles have reported several rapidly progressive ALS patients who developed ophthalmoplegia, while on respirators, and widespread degeneration in the CNS. By contrast, our extremely slowly progressive ALS patients developed alterations confined to upper and lower motor neurons. There may exist some diversities in ALS.
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PMID:[Two autopsy cases of sporadic amyotrophic lateral sclerosis with 20-year-clinical course without respirators]. 832 21

We examined the oculomotor and/or trochlear nuclei of 27 amyotrophic lateral sclerosis (ALS) patients and 10 controls by histological and immunohistological methods. Their neurons were relatively well preserved. In 7 of 22 sporadic ALS patients (including 3/3 ALS with ophthalmoplegia) and in 4 of 5 ALS patients with dementia, some morphological changes similar to those in anterior horns (Bunina bodies, ubiquitin-positive skein-like inclusions, Lewy body-like inclusions, conglomerate inclusions and spheroids) were rarely, but clearly seen. These changes were not observed in controls. Our results suggest that the oculomotor and trochlear nuclei in ALS patients are slightly affected in a manner similar to that in the anterior horns, but the degree is less than that necessary for development of ophthalmoplegia in the majority of ALS patients.
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PMID:Oculomotor nuclear pathology in amyotrophic lateral sclerosis. 849 57

The present paper concerns serial examinations of computed tomography (CT) and magnetic resonance imaging (MRI) in 22 patients with sporadic amyotrophic lateral sclerosis (ALS). Supranuclear ophthalmoplegia developed in 13 and dementia in 3 patients. The investigations showed gradually progressive atrophy, first in the frontal and anterior temporal lobes then in the precentral gyrus, and later in the postcentral gyrus, anterior part of the cingulate gyrus, corpus callosum and brain stem tegmentum. MRI revealed high intensity signals on T2-weighted images in the precentral and adjacent gyri, frontotemporal white matter and pyramidal tract as well as rarely in the globus pallidus and thalamus. These neuroradiological changes were not related to the duration of the clinical course or to the degree of the motor impairment. These alterations may play a critical role in the supranuclear ophthalmoplegia seen in ALS patients. The dementia of ALS probably reflects involvement of both the frontotemporal lobes and limbic system.
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PMID:Involvement of the frontotemporal lobe and limbic system in amyotrophic lateral sclerosis: as assessed by serial computed tomography and magnetic resonance imaging. 850 5

A 53-year-old woman developed bulbar palsy, spastic quadriplegia, amyotrophy, and supranuclear ophthalmoplegia, and thereafter her condition was managed with mechanical ventilation for 1 year. Her total clinical course was 6 years. The autopsy examination revealed neuronal loss with reactive astrocytosis in the precentral cortex, thalamus, mammillary body, amygdala, putamen, globus pallidus, subthalamic nucleus, and the substantia nigra, in addition to degeneration of lower motor neurons, some of which contained Bunina bodies. Along the corticospinal tract, there were severe axonal loss and numerous axonal spheroids, which were positive for phosphorylated neurofilament, ubiquitin, and synaptophysin, and lipid-laden macrophages in the centrum semiovale to the crus cerebri. Ballooned neurons, which were positive for phosphorylated neurofilament, were occasionally seen in the frontal cortex. Although in the common form of amyotrophic lateral sclerosis (ALS) both upper and lower motor neurons are mainly involved, the corticospinal tract degeneration cannot be traced rostral to the pons. The noteworthy features in our patient were the precentral cortical degeneration and axonal spheroids in the corticospinal tract rostral to the pons. It remains unclear why axonal spheroids in the corticospinal tract and precentral cortical degeneration are not observed in most ALS cases. Whether their development depends on the clinical duration, mechanical ventilator management, or some other factors remains an open question.
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PMID:Amyotrophic lateral sclerosis with numerous axonal spheroids in the corticospinal tract and massive degeneration of the cortex. 929 1

Ophthalmoplegia is rarely reported in patients with amyotrophic lateral sclerosis (ALS). We describe a patient with sporadic ALS, who had developed progressive external ophthalmoplegia of supranuclear origin and rigidity in the neck. Autopsy findings showed histopathological abnormalities consistent with ALS. In addition to these findings, there was neuronal loss and gliosis in the putamina and globi pallidi, and gliosis in the periaqueductal gray matter. Our case appears to raise the possibility that ALS comprises a heterogenous group of disorders.
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PMID:Amyotrophic lateral sclerosis with supranuclear ophthalmoplegia and rigidity. 1055 88

We report a patient with motor neuron syndrome similar to amyotrophic lateral sclerosis (ALS) and with spontaneous recovery. At the age 40, the woman developed progressive muscular weakness, atrophy and fasciculation in extremities. She also noted a dyspnea, tongue atrophy and dysphagia. A neurological examination 6 months after onset revealed i) a tongue atrophy and fasciculation, ii) diffuse muscule weakness and atrophy in face, neck and extremities, and iii) marked hyperreflexia in the four limbs and bilateral Babinski reflex, but iv) neither sensory disturbance nor ophthalmoplegia. Electromyogram (EMG) detected such denervation potentials as fibrillation potentials, fasciculation potentials, positive sharp waves and polyphasic or giant MUPs diffusely in the limb muscles. Peripheral nerve conduction study detected neither conduction block nor delay. Thus, she was diagnosed as suffering from ALS. However, since approximate 1 year after onset, her muscle weakness has gradually been getting better. Simultaneously, the dyspnea and dysphagia gradually improved. Two years after onset, an EMG examination detected chronic denervation potentials in the left musculus sternocleidomastoideus and a few on-going denervation potentials in the left musculus extensor carpi radialis, but no denervation potentials in other limb muscles. Fasciculation potentials were found in tongue muscles. Thus, the present case was thought to have a reversible motor neuron syndrome clinically quite similar to ALS. A mild increase in IgE (346 U/ml) and a low-titer IgM-class anti-GM1 antibody were found in her serum though its pathological significance was uncertain. Any immunological aberrance may account for the pathogenesis. It should be noted that clinically diagnosed cases of ALS may rarely recover spontaneously.
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PMID:[A patient with motor neuron syndrome clinically similar to amyotrophic lateral sclerosis, presenting spontaneous recovery]. 1133 88

In mammalian cells, mitochondria provide energy from aerobic metabolism. They play an important regulatory role in apoptosis, produce and detoxify free radicals, and serve as a cellular calcium buffer. Neurodegenerative disorders involving mitochondria can be divided into those caused by oxidative phosphorylation (OXPHOS) abnormalities either due to mitochondrial DNA (mtDNA) abnormalities, e.g., chronic external ophthalmoplegia, or due to nuclear mutations of OXPHOS proteins, e.g., complex I and II associated with Leigh syndrome. There are diseases caused by nuclear genes encoding non-OXPHOS mitochondrial proteins, such as frataxin in Friedreich ataxia (which is likely to play an important role in mitochondrial-cytosolic iron cycling), paraplegin (possibly a mitochondrial ATP-dependent zinc metalloprotease of the AAA-ATPases in hereditary spastic paraparesis), and possibly Wilson disease protein (an abnormal copper transporting ATP-dependent P-type ATPase associated with Wilson disease). Huntingon disease is an example of diseases with OXPHOS defects associated with mutations of nuclear genes encoding non-mitochondrial proteins such as huntingtin. There are also disorders with evidence of mitochondrial involvement that cannot as yet be assigned. These include Parkinson disease (where a complex I defect is described and free radicals are generated from dopamine metabolism), amyotrophic lateral sclerosis, and Alzheimer disease, where there is evidence to suggest mitochondrial involvement perhaps secondary to other abnormalities.
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PMID:Mitochondria and degenerative disorders. 1157 22


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