Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infantile neuroaxonal dystrophy is a degenerative disease, mostly of nerve endings in the central and peripheral nervous system, with typical pathological findings. We describe a 3-year-old boy who had suffered from nystagmus, progressive muscle weakness and dementia since the age of 10 months. Biochemical work-up, MRI of the brain, and electrophysiological studies were within normal limits. Only skin biopsy, and sural nerve biopsy at a later stage, were diagnostic. We stress the importance of performing tissue biopsy even when intensive investigation is negative.
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PMID:[Infantile neuroaxonal dystrophy]. 146 83

A 34-year-old male presented with central diabetes insipidus accompanied by upbeat nystagmus and cerebellar ataxia. The patient without family history of above began to walk at the age of 2 years. Polyposia and polyuria were noted at the age of about 4 years. Dysbasia developed at the age of about 7 years. From the age of 30, lalopathy appeared together with various clinical symptoms including cataracts, disturbed intelligence, upbeat nystagmus, abnormal ocular movements, ataxic speech, cerebellar ataxia and reduction of the muscle tone of the limbs, and hypotonic polyuria. Abnormal laboratory findings included square wave jerks, upbeat nystagmus, and "bow tie" nystagmus by EOG, atrophy of the cerebellum and the brainstem by CT, a slight prolongation of the P300 latency, and a central diabetes insipidus pattern by water deprivation test and Carter-Robbins tests. There have been occasional reports of diabetes insipidus complicated by cerebellar ataxia, but in no earlier reports has diabetes insipidus been concurrent with abnormal ocular movements such as upbeat nystagmus. A degenerative disease primarily of the posterior lobe of the hypophysis, hypothalamus, cerebellum, and brainstem was suspected.
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PMID:[Central diabetes insipidus complicated with upbeat nystagmus and cerebellar ataxia]. 162 38

Xeroderma pigmentosum associated with neurological abnormalities is a less familiar neurocutaneous disorder. In this report, 35 patients with group A xeroderma pigmentosum were assessed for neurological complications. Of these, 17 showed microcephaly and 24 mental retardation. Of 25 patients over 7 years of age, 22 had sensorineural deafness and 12 showed spinocerebellar signs such as nystagmus, dysarthria, tremor and ataxia, while none below 7 years of age had such neurological complications. Thirty-five EEG studies were performed on 29 patients, and 15 showed intermittent spindles of grouped theta waves with abnormal slow background activity and a poorly developed alpha rhythm, suggesting immature brain development or a regression from normal brain function in many areas including the diencephalon. Twenty-six patients were examined by cranial CT scan, of whom 20 showed abnormal CT findings such as ventricular dilatation, diffuse cortical atrophy, and marked thickening of the calvarial bones. The incidence of abnormal EEG and CT findings increased with advancing age in accordance with the development of neurological complications in the CNS, thus suggesting a chronic progressive degenerative disease.
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PMID:EEG and CT abnormalities in xeroderma pigmentosum. 281 76

Comparative examinations made on patients suffering of a degenerative disease of the retina causing a loss of their macular or their peripheral vision respectively and on patients with a lesion of the frontal or occipital lobe have revealed that the optokinetic nystagmus of patients with a frontal lesion behaves similar to the one elicited in patients with macular pathology, whereas the optokinetic nystagmus of patients with a lesion of the occipital eye fields revealed similar characteristics as the one evoked in patients with tubular field.
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PMID:Comparative clinical studies on foveal and peripheral optokinetic nystagmus. 480 54

Cerebral degenerative diseases produce a variety of abnormal neuro-otological findings on electronystamography (ENG). To assess their diagnostic value and determine which manifestations are helpful in making a diagnosis, ENG findings from 72 cases of confirmed cerebral degenerative disease were analyzed. We observed a high incidence of saccadic pursuit and upward ocular dysmetria, which is likely to be useful in diagnosing cerebral degenerative disease. In contrast, moderate incidences of horizontal ocular dysmetria, gaze-evoked and rebound nystagmus, vertical positioning nystagmus and impaired visual suppression appeared to reflect the degree of dysfunction, while optokinetic nystagmus appeared to reflect both the presence of disease and its severity. Cases of spinocerebellar ataxia 6 and spinocerebellar ataxia 3 tended to produce horizontal and vertical gaze-evoked nystagmus, whereas progressive supranuclear palsy produced a higher incidence of upward gaze-evoked nystagmus, and positioning nystagmus at the sagittal plane appeared frequently in cases of non-hereditary spinocerebellar degeneration.
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PMID:Electronystagmographic findings in patients with cerebral degenerative disease. 1167 27

Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.
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PMID:Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. 1546

Spinocerebellar ataxia 6 (SCA6), an autosomal dominant degenerative disease, is characterized by diplopia, gait ataxia, and incoordination due to severe progressive degeneration of Purkinje cells in the vestibulo- and spinocerebellum. Ocular motor deficits are common, including difficulty fixating on moving objects, nystagmus and disruption of smooth pursuit movements. In presymptomatic SCA6, there are alterations in saccades and smooth-pursuit movements. We sought to assess functional and structural changes in cerebellar connectivity associated with a visual task, hypothesizing that gradual changes would parallel disease progression. We acquired functional magnetic resonance imaging and diffusion tensor imaging data during a passive smooth-pursuit task in 14 SCA6 patients, representing a range of disease duration and severity, and performed a cross-sectional comparison of cerebellar networks compared with healthy controls. We identified a shift in activation from vermis in presymptomatic individuals to lateral cerebellum in moderate-to-severe cases. Concomitantly, effective connectivity between regions of cerebral cortex and cerebellum was at its highest in moderate cases, and disappeared in severe cases. Finally, we noted structural differences in the cerebral and cerebellar peduncles. These unique results, spanning both functional and structural domains, highlight widespread changes in SCA6 and compensatory mechanisms associated with cerebellar physiology that could be utilized in developing new therapies.
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PMID:Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. 2620 44