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 studied cerebral blood flow and oxygen metabolism in 6 patients with pure akinesia (PA), 8 patients with progressive supranuclear palsy (PSP), 16 patients with Parkinson's disease (PD), and 10 normal control subjects using positron emission tomography (PET). Regions of interest were studied in the cerebral cortex (the frontal, temporal, parietal, and occipital lobe), thalamus, cerebellar hemispheres, cerebellar vermis, and brainstem. In patients with PA, regional cerebral blood flow (CBF) was significantly decreased in the frontal cortex, thalamus, and brainstem compared with normal control subjects. PSP patients showed significantly decreased CBF in the entire cerebral cortex, thalamus, cerebellar hemispheres, and brainstem and regional cerebral oxygen metabolic rate (CMRO2) in the frontal cortex, thalamus, and brainstem, whereas patients with PD were revealed to be normal in both CBF and CMRO2 values. In conclusion, a part of patients with PA may be in the early stage of PSP or may be atypical presentations of PSP whose symptom is only akinesia judging from the followings. 1) PET findings demonstrated a close similarity between PA and PSP; a pattern of CBF and CMRO2 decrement especially in the frontal cortex, thalamus and brainstem. 2) Patients with PA were shown to have similar pathological changes to PSP in recent studies. 3) Several authors reported that some PSP cases could show only akinesia initially, later developing dementia, supranuclear ophthalmoplegia, pseundobulbar palsy, and nuchal rigidity during their illnesses.
 ...
PMID:[Cerebral blood flow and oxygen metabolism in patients with pure akinesia and progressive supranuclear palsy]. 795 10

Over the past 13 years at VGH-Taipei, five cases were morphologically defined as having mitochondrial disease and clinically presented with syndromes other than chronic progressive external ophthalmoplegia. There were two cases presenting with dementia, extensive and symmetrical intracerebral calcification but no clinical and other laboratory evidence of skeletal muscle affection; one case with MERRF syndrome; one case with congenital myopathy and cardiomyopathy; and one case with prednisolone-responsive and polymyositis-like myopathy. The following comments are made: 1. The inexplicably lower incidence of encephalopathy group might result from inadequate alertness of clinicians. 2. The clinical classification might have some clinical convenience, but, identification of defects at the DAN level and determination of the phenotypic expression with clinical, morphologic and biochemical methods are fundamental for future rational diagnosis and classification of mitochondrial diseases.
 ...
PMID:Mitochondrial disease with encephalopathy or limb girdle myopathy: a report of five cases. 817 14

We reported an autopsy case of hereditary OPCA genetically proved to be SCA 1. Clinically, he showed cerebellar ataxia from beginning to the end stage, and was characterized by slow eye movement with external ophthalmoplegia, pyramidal tract signs, generalized amyotrophy including facial muscle, mild bulbar paresis, mild dementia, and urinary disturbance. Neuropathologically, the degeneration and loss of neurons with gliosis were seen in the Purkinje layer, dentate nucleus of the cerebellum, inferior Olive nucleus, motor nucleus of cranial nerve, anterior horn of the spinal cord, and column of the Clarke. And the myelinpallor was revealed in the connecting nerve fiber of these lesions, posterior column and spinocerebellar tract of the spinal cord.
 ...
PMID:[Neuropathological study of autosomal dominant ataxia linked to loci on chromosome 6p (SCA 1)]. 829 64

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.
 ...
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.
 ...
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

Pure neurologic Whipple's disease (WD) may be suspected by same clinical data (dementia-ophthalmoplegia-myoclonus triad, oculomasticatory myorhythmia) with support of MRI. Diagnosis is confirmed by intestinal and/or brain biopsy. Early recognition is critical in a disease that can lead to irreversible neurologic sequelae and that can potentially be cured. Despite therapy, relapses in patients with WD are common, being neurologic recurrence the most frequent and serious. Antibiotics that do not cross the blood-brain barrier are not adequate initial therapy for WD, because they predispose to neurologic relapse. Patients with WD should be treated for one year with antibiotics that cross the blood-brain barrier (such as parenteral penicillin+streptomycin, followed by oral trimethoprim-sulfamethoxazole). CNS relapse is usually resistant to therapy.
 ...
PMID:[Neurologic manifestations of Whipple disease]. 851 45

Autosomal dominant cerebellar ataxia type I was diagnosed in three unrelated families from Martinique (French West Indies), and linkage to the locus for spinocerebellar ataxia 2 (SCA2) was established. Neuropathological findings in two patients were those of olivopontocerebellar atrophy without oligodendroglial cytoplasmic inclusions. Cerebellar ataxia was associated with hyporeflexia in 68% of 31 examined patients, with slowed and/or limited eye movements in 65% and with dementia in 29%. No patients had optic atrophy, pigmentary retinal degeneration, spasticity or parkinsonism. Mean age at onset was 33 +/- 16 years, and onset before the age of 20 years was correlated with a more rapid and severe course of the disease. Movement disorders, oculomotor disturbances, sphincter disturbances and cognitive impairment were significantly more frequent in early than in late onset patients. This explains why the phenotype was strikingly different in one family, in which mean age at onset was much earlier. Comparison with previously described SCA2 families indicated similarities, such as reduced saccade velocity, supranuclear ophthalmoplegia and decreased reflexes, although phenotypic heterogeneity remains the outstanding feature of this disorder.
 ...
PMID:Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. 859 86

We report an unusual autopsy case of corticobasal degeneration. The patient was male who was 67 years old at the time of his death. He developed clumsiness of his right hand at age 65. Neurological examination at age 66 revealed supranuclear ophthalmoplegia of upward gaze and parkinsonism. Progressive supranuclear palsy was suspected. The patient's clinical course was rapidly progressive. Dementia developed nine months after the onset of the disease, and the patient manifested apallic syndrome at 21 months and died of pneumonia at about 25 months. At autopsy the brain weighed 1370g. Macroscopic examination revealed prominent atrophy of the anterior and parietal lobes, particularly of the pars opercularis in the left inferior frontal gyrus, and there was marked depigmentation of the substantia nigra. Histological examination showed neuronal loss, glial proliferation, spongy state, and ballooned neurons in the frontal and parietal lobes. Neuronal loss with glial proliferation was conspicuous in the striatum, pallidum, thalamus, and substantia nigra. There was slight neuronal loss in the dentate nucleus and locus ceruleus. Staining by Gallyas-Braak method revealed massive appearance of argyrophilic threads. This case is important in terms of the clinical differentiation from progressive supranuclear palsy, and is also interesting in regard to the pathological correlation with slowly progressive aphasia.
 ...
PMID:[An unusual autopsy case of corticobasal degeneration--with special reference to clinicopathological differentiation from progressive supranuclear palsy and slowly progressive aphasia]. 870 59

A 57-year-old man had exhibited cortical sensory disturbance, rigidity, spasticity, dementia, alien hand, grasp reflex, supranuclear ophthalmoplegia, pseudobulbar palsy, and neck dystonia for 4 years. Histological examination of autopsied specimens revealed neuronal loss in the cerebral cortex, with ballooned neurons, subthalamic nucleus, substantia nigra, basal ganglia, midbrain tegmentum, and the thalamus. There were neurofibrillary tangles in the subthalamic nucleus and the substantia nigra. Gallyas-Braak silver impregnation demonstrated numerous argentophilic tangles, threads, and a few argentophilic glia in the cerebral cortex, subcortical white matter, particularly in the precentral gyrus, subcortical nuclei, and the brainstem. These argentophilic structures were largely positive for tau, and negative for ubiquitin, paired helical filaments, and phosphorylated neurofilament. Ultrastructurally, 15-nm-wide straight tubules were observed in the neurons of the substantia nigra, globus pallidus, and the precentral cortex, coexisting with a few twisted tubules periodically constricted at 160- to 230-nm intervals. It was conclusively shown that Gallyas- and tau-positive cytoskeletal abnormalities occurred widely in brain of corticobasal degeneration. Both distribution and morphology of abnormal phosphorylated tau protein in corticobasal degeneration appear to resemble these features in progressive supranuclear palsy. These findings suggest a common cytoskeletal etiopathological significance in corticobasal degeneration and progressive supranuclear palsy.
 ...
PMID:Corticobasal degeneration: widespread argentophilic threads and glia in addition to neurofibrillary tangles. Similarities of cytoskeletal abnormalities in corticobasal degeneration and progressive supranuclear palsy. 879 Dec 41

Progressive supranuclear palsy (PSP) is a degenerative neurological disease not typically associated with a family history. Two siblings developed identical clinical features consisting of supranuclear vertical ophthalmoplegia, bradykinesia, rigidity, gait disturbance, and dementia. There was no history of encephalitis or of exposure to known chemicals. L-dopa and dopamine agonist therapy were minimally effective. Autopsy of 1 patient revealed the typical pathological findings of PSP: severe neuronal loss with neurofibrillary tangles (NFTs) in the substantia nigra, subthalamic nucleus, and locus ceruleus. Prominent neurofibrillary degeneration of the amygdaloid nucleus and hippocampus was also observed. Scattered neurofibrillary tangles were seen in the cerebral cortices. Cerebellar degeneration was characterized by a loss of neurons in the dentate nucleus associated with neurofibrillary tangles. Lewy bodies and cortical neuritic plaques were notably absent. The existence of a rare familial form of PSP is supported by these 2 siblings.
 ...
PMID:Familial progressive supranuclear palsy. 883 6


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