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)

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
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PMID:[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. 771 56

We reviewed the ophthalmological and genetic aspects of mitochondrial diseases, a group of multisystem disorders that involve the function and morphology of mitochondria and affect multiple organs including skeletal muscle, central nervous system, heart, and ear. Disease-specific deletion or point mutation of mitochondrial DNA (mtDNA) has been clarified in many clinical entities of the group, and we confirmed that the ocular manifestations, including chronic progressive external ophthalmoplegia, blepharoptosis, retinochoroidal degeneration and optic nerve atrophy, develop in association with either deletion or point mutation of mtDNA. Together with a review of the literature, we describe a case of myoclonic epilepsy and ragged-red fibers with mutation at mtDNA 8344 and insidious bilateral optic atrophy. We also describe cases of myotonic dystrophy which had an abnormal expansion of CTG repeat of chromosome 19 protein kinase gene and showed retinochoroidal degeneration and mitochondrial morphological changes.
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PMID:[Ocular manifestations in mitochondrial DNA abnormalities]. 810 43

Thallium intoxication is characterized by the development of painful peripheral neuropathy, alopecia, mental disorders, and in severe cases, respiratory failure and death. Toxic optic neuropathy is also a feature. Ophthalmologic features of thallium poisoning include optic neuropathy, blepharoptosis, lens opacities, and ophthalmoplegia. A 44-year-old man with criminal sublethal thallium poisoning was examined one month after he was seen in the neurology department with classic systemic features. He was found to have diminished contrast sensitivity, a tritan defect in color vision, and a relative cecocentral scotoma before he developed optic atrophy.
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PMID:Ophthalmologic features of thallium poisoning. 811 54

We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary ataxias of unknown etiology is difficult because of the heterogeneity of these diseases. The clinical course of IOSCA is homogeneous. Ataxia, muscle hypotonia, athetosis, and loss of deep tendon reflexes in the legs appeared around the age of 1 year. Ophthalmoplegia and deafness were found by school-age, and sensory axonal neuropathy and optic atrophy by adolescence. An acute crisis with epilepsy was a late manifestation. The female patients had hypogonadism. In order to define the type of hypogonadism and to exclude other endocrine defects we measured serum concentrations of SHBG, DHEAS, prolactine, testosterone/estradiol, FSH and LH in postpubertal patients. ACTH, hCG and GnRH tests were performed to both pre- and postpubertal patients. Growth was analysed, and the brain and pituitary region were examined with magnetic resonance imaging (MRI). The estradiol values were low and FSH and LH values were high in the female patients, which indicates that the hypogonadism was of the hypergonadotropic type. The growth of the female patients was steady without a significant pubertal growth acceleration. The growth and pubertal development of the male patients were normal. The adrenal cortical and thyroidea functions were normal in all patients.
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PMID:Primary hypogonadism in females with infantile onset spinocerebellar ataxia. 855 18

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.
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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

Mutations in nuclear or mitochondrial DNA may cause disorders of neuro-ophthalmic significance. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. In addition to more accurate disease classification and diagnosis, identification of genetic loci, genes, and their mutations has stimulated investigation into factors influencing disease expression and penetrance.
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PMID:Neuro-ophthalmic genetics. 1017 1

Clinical and radiological changes in tuberculous meningitis (TBM) have been reported but there is paucity of comprehensive serial clinicoradiological follow-up. In this prospective hospital based study, we investigated serial changes in the clinical and radiological findings and their relationships over 6 months in 31 consecutive patients with TBM, diagnosed on the basis of clinical, radiological and spinal fluid criteria. We graded the severity of the TBM as I-III. Detailed clinical examination, contrast-enhanced CT and activities of daily living (ADL) assessments were made on admission, and 3 and 6 months after therapy. Further CT was carried out as required. Patients received four-drug antituberculous therapy (RHZE) and underwent a ventriculoperitoneal shunt if necessary. Outcome was defined as poor, partial or complete recovery using the Barthel index score at 6 months. The age of the patients was 6-80 years, mean 35.2 years; four were children and 13 female. Meningitis was stage I in 5, stage II in six and stage III in 20 patients. Focal weakness was present in nine, papilloedema in six and ophthalmoplegia in ten. There were ten patients who deteriorated within first 6 weeks of therapy. Mean Glasgow coma score (GCS) deteriorated from 12.5 to 11.4; the grade of meningitis increased by two stages in one patient, one stage in another, and motor deficits appeared in four and optic atrophy in four; four patients required shunt surgery. By 3 months most patients were stable. At 6 months 17 patients had complete, four partial and nine poor recovery. Initial CT was abnormal in 28 patients, revealing hydrocephalus and exudates in 15 each, infarcts in ten and tuberculomas in 13. It was repeated in ten patients who deteriorated, showing new abnormalities such as hydrocephalus in two, infarcts in four, exudates in four and granulomas in two, with worsening of the previous findings. CT at 3 and 6 months was still abnormal in most patients. At 6 months hydrocephalus had disappeared in four, as had tuberculomas in seven and exudates in six, but infarcts did not change. Initial deterioration was related to weakness on admission and the GCS. Cognitive impairment significantly correlated with exudates and tuberculomas and motor deficits with infarcts. Thus, a third of patients with TBM may deteriorate within 6 weeks of starting treatment and CT can be helpful in managing them. Worsening on treatment was related to weakness and GCS on admission. In most patients CT remained abnormal at 6 months despite clinical recovery.
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PMID:Serial study of clinical and CT changes in tuberculous meningitis. 1268 1

We report a 70-year-old woman with bilateral optic atrophy, external ophthalmoplegia, bilateral blepharoptosis, and sensory ataxic neuropathy. She had a visual disturbance since childhood. She had dysarthria and gait disturbance at 28 years old. She had bilateral blepharoptosis, marked gait disturbance and dysphagia at 50. On neurological examination, external ophthalmoplegia, bilateral blepharoptosis, mild weakness and muscular atrophy of promixal muscles, hyporeflexia, positive Romberg sign, glove and stocking type sensory disturbance including hypesthesia, hypalgesia, and bathyhypesthesia were found. She did not show pigmented retinopathy, cognitive dysfunctions, hearing loss, cerebellar ataxia, Hoffman reflex nor Babinski sign. She did not show increased lactic acid nor pyruvic acid in the cerebrospinal fluid but mild increase of pyruvic acid (1.0 mg/dl) in her serum. The conduction velocity and amplitude of CMAP of tibial nerve was 37.4 m/sec and 2.9 mV, respectively. The SNAP of ulner and sural nerve were not evoked. Brain MRI showed no pathological findings. Muscle biopsy from the biceps muscle showed many ragged-red fibers (5.3%) and some fibers with decreased or absent COX activity. Sural nerve biopsy showed a marked loss of large myelinated fibers with thin myelinated fibers, and onion-bulb formation. The clinical findings of our patient is similar to that of SANDO (the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis), however, large mtDNA deletion reported by Fadic in patients with SANDO was not found in our patient. It might be possible that her mtDNA deletion is small or point mutation is existed.
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PMID:[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy]. 1472 65

We report clinical features of ocular symptoms in 80 patients with multiple sclerosis (MS). Serial 80 patients with MS had been admitted to our Neurology Ward at Nihon University Itabashi Hospital from April 1980 to October 2003. All patients were also examined by our neuro-ophthalmologists. Ocular symptoms were observed in 49 patients, and 14 patients were male and 35 were female. Patients' age at onset varied from 17 to 51 years old, with the average being 31.2 +/- 4.2 years. Observation period were 6 months to15 years, and average 5.4 +/- 1.4 years. In visual symptoms, retrobulbar optic neuritis was observed in 33 eyes of 26 patients. On the first attack of retrobulbar optic neuritis, 25 eyes showed a corrected visual acuity of less than 0.1. After corticosteroid therapy, a corrected visual acuity improved more than 1.0 in 17 eyes. Optic atrophy was observed in 22 eyes and color blindness in 16 eyes. On the second attack of retrobulbar optic neuritis on the same eyes, 6 of 9 eyes showed a corrected visual acuity of less than 0.1 after corticosteroid therapy. Optic atrophy and color blindness were confirmed in all eyes. Homonymous hemianopia was detected in 2 female patients and completely resolved after corticosteroid therapy. On the other hand, ocular motor symptoms were observed in 29 patients. Internuclear ophthalmoplegia was detected in 18 patients, nystagmus in 5, abducens nerve palsy in 5, skew deviation in 5, one-and-a-half syndrome in 2, gaze palsy in 2 and ocular myoclonus in 1. In all except one patient with primary position downbeat nystagmus, ocular myoclonus and bilateral internuclear ophthalmoplegia, these symptoms improved completely within 8 weeks after corticosteroid therapy. We emphasize that cooperation of neurologist and ophthalmologist plays an important role for clinical evaluation of MS patients.
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PMID:[A neuro-ophthalmological analysis in 80 cases of multiple sclerosis]. 1547 Oct 86

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease.
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PMID:Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 1615 27


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