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)

The authors report the clinical and laboratorial findings of 5 affected members (all males) of a family with Machado-Joseph disease. The mode a inheritance was autosomal dominant. The mean onset age was 38 years (range 30-50 years). The clinical picture was pleomorphic and included cerebellar ataxia, external ophthalmoplegia with bulging eyes, extrapyramidal/pyramidal syndromes, amyotrophy with fasciculations and peripheral neuropathy, in variable degrees of severity. In one patient parkinsonian rigidity was greatly improved with the use of trihexaphenidyl and L-dopa. CT scan examinations disclosed a variable degree of cerebellar atrophy, with mild cerebral atrophy in one patient. Brainstem evoked potentials were normal in two patients. EMG showed denervation in three patients. Muscle biopsy (gastrocnemium) with histochemical studies revealed chronic muscle denervation in four cases. Sural nerve biopsy with conventional pathological study was normal in four cases. This family was living in Florianopolis, Santa Catarina, where there is a great number of Portuguese descendants from the Azores Islands. The worldwide presence of the disease seems to result from the genic diffusion of the disease with the Portuguese emigration during the Great Navigations Era and with some later emigratory settlement.
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PMID:[Machado-Joseph disease: description of 5 members of a family]. 181 Feb 35

Mitochondrial DNA (mtDNA) deletion is associated with a variety of clinical entities. In addition to progressive external ophthalmoplegia and Kearns-Sayre syndrome, mtDNA deletions have been demonstrated in Pearson's syndrome. We report an mtDNA deletion in an infant with a variant of Pearson's syndrome. Not only does she have congenital anemia, severe tubulopathy, and exocrine pancreas insufficiency, but she also has diabetes and cerebral atrophy. However, there are no signs of gut or liver involvement. Bone marrow improved while new tissues were involved, thus showing variability in progression of the disease. Decreased respiratory chain enzyme activities were demonstrated in muscle, and an mtDNA deletion was demonstrated in muscle, kidney, leukocytes, and fibroblasts.
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PMID:Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. 195 15

A 16-month-old girl was admitted because of bilateral ophthalmoplegia, left blepharoptosis, and disturbance of consciousness. Her symptoms resolved spontaneously within a week after admission, but mild left abducens palsy remained. The cranial computed tomography showed a mild non-specific brain atrophy. The auditory brain stem response was normal. Visual evoked potentials (VEPs) to flash stimuli were repeated serially after the onset. No significative patterns of VEP were evoked during the acute stage. However, three months after the onset, an asymmetrical pattern, namely left-sided abnormalities (not-identified P 100 wave, etc.), was observed. The asymmetrical pattern of VEP diminished six months after. And a bilaterally normal VEP pattern was found twelve months after.
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PMID:[Visual evoked potential abnormalities in a girl with brain stem encephalitis (Bickerstaff)]. 222 89

We present a review on recent neuroimaging techniques, like x-ray computed tomography (XCT), magnetic resonance imaging (MRI), positron emission tomography (PET) and single photon emission tomography (SPECT) in dementia and related diseases. Significant new findings have been obtained using techniques reflecting proton density, regional brain perfusion and brain metabolism. In dementia of the Alzheimer type, for example, temporoparietal and sometimes also frontal reductions in cerebral blood flow and metabolism are characteristic. The infarctions found in multi-infarct dementia are especially well visualized on T2-weighted MRI images. Pick's disease is characterized by brain atrophy and decrease of radiotracer activity in the frontal lobes. In huntington's chorea the metabolic rate on PET scan in the area of the caudate nuclei may be reduced even before signs and symptoms become apparent. Furthermore, neuroimaging provides us with fairly typical finding in Creutzfeld-Jakob's disease, alcoholic dementia, Wilson's disease, hydrocephalus, Parkinson's disease, progressive supranuclear ophthalmoplegia, Fahr's disease, and the olivopontocerebellar ataxias. Neuroimaging techniques, however, have always to be interpreted in conjunction with clinical findings, thus disclosing their full range of information.
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PMID:[Diagnostic differentiation of dementia diseases by modern imaging procedures]. 227 95

A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxidase deficiency, 58% decrease of cytochrome aa3 and 41% decrease of cytochrome b. Enzyme-linked immunosorbent assay showed decrease of the immunologically active enzyme protein.
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PMID:Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency. 254 Feb 84

A 41-year-old female of mitochondrial myopathy characterized by recurrent paralytic ileus and atonic bladder with the evidence of peripheral nerve involvement was described. This patient was admitted to our hospital because of the episode of paralytic ileus and atonic bladder at the age of 40 and 41 (1987). She had noticed sporadic headache from 1967, constipation from 1977, tinnitus and hearing disturbance from 1984. One month after her second admission in 1987, her symptoms of paralytic ileus and atonic bladder gradually disappeared. She was then transferred to the department of neurology for the evaluation of underlining neurological disorders. Neurological examination revealed dementia, oro-lingual dyskinesia, and proximal muscular weakness. However, none of the following signs or symptoms were observed; Ophthalmoplegia, blepharoptosis, retinitis pigmentosa, myoclonus, cerebellar ataxia, sensory disturbance, and orthostatic hypotension. Deep tendon reflexes were normal. Planter responses were flexor. Pyruvate and lactate were elevated in both serum and cerebrospinal fluid. Brain CT scan displayed moderate cerebral atrophy and basal ganglia calcifications. EMG was normal except for the external anal sphincter muscles which showed a denervation pattern. Motor nerve conduction velocity was normal in the right median and the right peroneal nerves. Sensory nerve conduction velocity was also normal in the right median and the right sural nerves. However, the amplitude of sensory potential was low in both these nerves. Atonic type of neurogenic bladder was noted on cystometry. There was a lack of voiding desire. The number of active sweat glands iontophoretically stimulated by pilocarpine was reduced. The most prominent feature of the muscle biopsy (the left biceps brachii) was myopathic changes with ragged-red fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Paralytic ileus and atonic bladder in a case of mitochondrial encephalomyopathy--electrophysiological, chemical and pathological study with evidence of the peripheral nerve involvement]. 255 55

Nine cases of progressive supranuclear palsy are reported in this paper. There are 6 males and 3 females in this series. The average age at admission was 62 years. The clinical features of those cases are: (1) onset at the presenile with gradual progression, (2) supranuclear vertical ophthalmoplegia, especially downgaze paresis, (3) disarthria, (4) gait disturbances, (5) dystonia and rigidity of the limbs, (6) clumsiness and ataxia, (7) masked face, (8) bilateral pyramidal signs and (9) mental disturbances. The CT scan in this series showed dilatation of the ventricular system, enlargement of the Sylvius fissure and cortical sulci. There was also enlargement of quadrigeminal and cisterns in the CT scan. The CT diagnosis were cerebral atrophy in 9 cases and brainstem atrophy in 8 cases in this series.
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PMID:[Progressive supranuclear palsy]. 263 3

We report the clinical and neuropathological findings in an autopsy case of progressive dementia, Parkinsonism, pseudobulbar palsy and supranuclear ophthalmoplegia. Since 70 years old, this hypertensive patient developed forgetfulness, unsteady gait and festination. These symptoms rapidly worsened and he was admitted in October 1983, at age 71. He had severe dementia and showed stiff face. Voluntary vertical movement of the eyes was severely disturbed, but reflex vertical movement by the doll's head eye maneuver was not affected. Muscle tone in the limbs increased slightly, and deep tendon reflexes were hyperactive in jaw and the upper extremities. Babinski sign was negative bilaterally. Sensation and coordination remained normal. Although he was not paretic or ataxic, his movements were very slow. He could not stand by himself and easily fell backward. These clinical features resembled those of progressive supranuclear palsy except for severe dementia and rapid progression. Brain CT scan revealed marked dilatation of the lateral ventricles, prominent periventicular lucency and atrophy of brainstem and cerebral cortex. Treatment with levodopa slightly improved his movement, but difficulty in swallowing worsened increasingly. He died of hypoglycemic coma and aspiration pneumonia in September 1984, about two years after the initial symptoms. General autopsy showed severe pneumonia and atrophy of the liver. The brain weighed 1,210g. Atherosclerotic change in the cerebral arteries were mild. Coronal sections of the cerebral hemispheres revealed diffuse ischemic change and multiple small infarctions in the bilateral cerebral white matter. Cortical atrophy was observed in the cerebral hemispheres. The basal ganglia, thalamus, and pons showed status lacunaris. Atrophy of midbrain and depigmentation of the substantia nigra were observed macroscopically.
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PMID:[Progressive supranuclear palsy accompanied with progressive subcortical vascular encephalopathy of Binswanger type--a case report]. 275 47

A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and "ragged-red fibers." On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood.
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PMID:Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome. 648 80

We report a patient with mitochondrial encephalomyopathy presenting parkinsonism, as well as her brother who had ataxia but not parkinsonism. Both patients had myopathy, deafness, and insulin-dependent diabetes mellitus. The proband was a 55-year-old woman, who has developed progressive difficulty in walking and slowness of movement since 53 years of age, becoming bed-ridden at 55. Neurological examination revealed mental impairment, a masked face, Myerson's sign, vertical supranuclear ophthalmoplegia, and severe sensorineural deafness, hypokinesia, rigidospasticity, and weakness of the extremities. But tremor and cerebellar ataxia were absent. Her 48-year-old brother gradually developed weakness of the lower extremities and drunken gait over a few years. On neurologic examination, vertical supranuclear ophthalmoplegia, moderate sensorineural deafness, and cerebellar ataxia were present, but parkinsonism was absent. Three other siblings were reported to have died in early childhood. Cranial MR imaging showed cerebral atrophy and mild atrophy of the cerebellar vermis as well as mild periventricular hyperintensities in T2-weighted images in both patients. However, no infarcts were seen. Laboratory investigations revealed slightly elevated lactate and pyruvate levels in the proband and elevation of pyruvate in her brother. A biopsy specimen obtained from the quadriceps muscle showed ragged-red fibers with modified Gomori trichrome staining, and a decrease of complex I+III and complex II+III activity in the proband. Mitochondrial DNA (mtDNA) analysis using the polymerase chain reaction and restriction enzyme Apa I showed a point mutation in the tRNA(Leu)(UUR)) gene (an A to G transition at nucleotide 3243) in both patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. 802 31


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