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)

We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.
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PMID:A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. 351 63

Exposure to microgravity causes alterations in postural, locomotor and oculomotor functions. The vestibular abnormalities experienced by astronauts entail immediate reflex motor responses, including postural illusions, sensations of rotation, nystagmus, dizziness and vertigo, as well as space motion sickness. Adaptation to the microgravity environment usually occurs within one week, and a subsequent re-adaptation period of several months is often required upon return to Earth. Some astronauts experience recurrences of dizziness, nausea, and vomiting, as well as marked disturbances in postural equilibrium in the absence of vision during this readaptation period. The mechanisms underlying such adaptation processes remain unclear, although current evidence favors some type of sensory conflict. The purpose of the present study was to explore the structural basis for the reorganization in the central vestibular system that underlies the process of adaptation to altered gravitational environments. Hindbrain tissue was obtained from rats flown on the Neurolab shuttle mission (STS-90) that launched on April 17, 1998. Tissue for the present report was obtained from four adult Fisher 344 rats sacrificed on orbit during flight day 2 (FD2), 24 hr after launch. Equal numbers of vivarium control animals and cage-controls were sacrificed 48 and 96 hr, respectively, after the flight dissections. Following decapitation, each hindbrain was immersion-fixed for 45 min in 4% paraformaldehyde/0.1% glutaraldehyde in 0.1M phosphate buffer pH 7.3, and then transferred to a 4% paraformaldehyde solution in 0.1M phosphate buffer for 18 days at 4 degrees C. After this fixation, the cerebellum was dissected away from the ventral portion of the brainstem by severing the cerebellar peduncles. The entire cerebellum of each rat was cut by Vibratome into 100 micrometers thick sections in the parasagittal plane. These sections were collected serially and processed for electron microscopy by osmication, dehydration in a graded series of methanol solutions, infiltration with resin, and embedment in Epon-Araldite resin between plastic coverslips.
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PMID:Anatomical observations of the rat cerebellar nodulus after 24 hr of spaceflight. 1154 23

In this paper we review space flight experiments performed by our laboratory. Rhesus monkeys were tested before and after 12 days in orbit on COSMOS flights 2044 (1989) and 2229 (1992-1993). There was a long-lasting decrease in post-flight ocular counter-rolling (70%) and vergence (50%) during off-vertical axis rotation. In one animal, the orientation of optokinetic after-nystagmus shifted by 28 degrees from the spatial vertical towards the body vertical early post-flight. Otolith-ocular and perceptual responses were also studied in four astronauts on the 17-day Neurolab shuttle mission (STS-90) in 1998. Ocular counter-rolling was unchanged in response to 1-g and 0.5-g Gy centrifugation during and after flight and to post-flight static roll tilts relative to pre-flight values. Orientation of the optokinetic nystagmus eye velocity axis to gravito-inertial acceleration (GIA) during centrifugation was also unaltered by exposure to microgravity. Perceptual orientation to the GIA was maintained in-flight, and subjects did not report sensation of translation during constant velocity centrifugation. These studies suggest that percepts and ocular responses to tilt are determined by sensing the body vertical relative to the GIA. The findings also raise the possibility that 'artificial gravity' during the Neurolab flight counteracted adaptation of these otolith-ocular responses.
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PMID:Ocular and perceptual responses to linear acceleration in microgravity: alterations in otolith function on the COSMOS and Neurolab flights. 1509 79

Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is an early-onset cerebellar ataxia with spasticity, amyotrophy, nystagmus, dysarthria, and peripheral neuropathy. SACS is the only gene known to be associated with the ARSACS phenotype. To date, 55 mutations have been reported; of these, only five in Italian patients. We found two novel homozygous nonsense mutations in the giant exon of SACS gene in two unrelated patients with classical ARSACS phenotype. Characterization of the homozygous nature of the mutations through genotyping of the parents, quantitative DNA analysis and indirect STS studies permitted us to confirm in one of the cases that uniparental isodisomy of the paternal chromosome 13 carrying the mutated SACS gene played an etiologic role in the disease.
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PMID:Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS. 2085 69