Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed.
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PMID:Congenital occipitoatlantoaxial malformations in the horse. 56 4

Since the description by Galen in the 2nd Century, A.D., clinical neurology has acknowledged the existence of two types of tremor: that which occurs at rest and that occuring during the execution of movement. With the help of refined methods of analysis, E.M.G. and cinephotography, the authors have carried out a detailed clinical assessment in more than 400 patients. The basic criterion used to define a tremor was the classical definition of Dejerine: "An involuntary, rhythmical and symmetrical movement about an axis of equilibrium." As a result of this study, the conclusion has been reached that there are two types of tremor: postural tremor and tremor of attitude. Both are present while the limb remains immobile, whether by wilful design or when at rest in a position of posture and subject only to the action of gravity. During voluntary movement, tremor is not present. Irregular, asymmetrical and non-rhythmic oscillations may appear however - as in so-called intention tremor, of cerebellar origin - but this abnormal movement can hardly be called a real tremor. It is merely a manifestation of ataxia. As a consequence of this study, it is suggested that further understanding of the basic mechanism of tremor can be reached by the investigation of the central neural structures which are involved in the physiology of posture and attitude.
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PMID:Semiology of Tremors. 109 80

A mutant strain of Han-Wistar rat carries an autosomal recessive gene producing spastic paresis which is characterized by ataxia, tremor and hind limb rigidity. Brains of affected rats and unaffected littermate controls were transected at the mesencephalon into rostral and caudal portions (the caudal portion contained the cerebellum and brainstem). Poly(A)+ mRNA was isolated from pooled rostral or caudal portions and injected into Xenopus oocytes. The oocytes were voltage-clamped and exposed to 1 mM L-glutamate, 500 microM kainate, 500 microM quisqualate, 200 microM N-methyl-D-aspartate (NMDA) or 1 mM gamma-aminobutyric acid (GABA). Oocytes injected with mRNA isolated from the caudal portions of the affected rat brains exhibited statistically significant increases in glutamate and kainate peak current responses compared to oocytes injected with mRNA from other brain samples. No differences were noted in the responses of the groups when exposed to quisqualate, NMDA or GABA. Cerebellar and brain stem mRNA were also isolated separately in different groups of mutants and unaffected littermates. Only oocytes injected with cerebellar mRNA from mutants displayed statistically significant increases in responses to glutamate and kainate. In parallel morphological studies changes in the cerebellum of mutants were also observed. These consisted of a loss of Purkinje cells and an asymmetrical disarrangement of the granule cell layer of cerebellar cortex. Taken together, the physiological and morphological results suggest that alterations in glutamate/kainate receptors in the cerebellum are phenotypic manifestations of the Han-Wistar mutation. The results are consistent with the hypothesis that this mutant rat might serve as a model of glutamate/kainate excitotoxicity in the brain.
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PMID:Altered excitatory amino acid function and morphology of the cerebellum of the spastic Han-Wistar rat. 168 5

Ten patients with disequilibrium, ataxia, and cerebrovascular abnormalities were studied using computer aided eye tracking and vestibular function tests. The patients had severe abnormalities in smooth pursuit (decreased gain) and saccade tests (increased delay, decreased accuracy). Optokinetic responses were less affected. The gain of the vestibulo-oculomotor reflex was sometimes affected. Patients with eye tracking abnormalities frequently had symptoms of difficulty reading and watching television. When the lesion was asymmetrical, abnormal eye tracking tests usually pointed to the side of the lesion. Computer aided eye tracking tests are a useful adjunct to the evaluation of the patient with suspected vascular disease. They help to locate areas of central nervous system dysfunction, and produce an objective measurement of the severity of impairment. Conversely, when impairment of the smooth pursuit or saccade system is detected in patients being evaluated for disequilibrium, an assessment of the patients' cerebrovascular system should be considered.
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PMID:Eye tracking abnormalities in patients with cerebrovascular disease. 635 Jul 69

A mother and son suffer from hemiplegic migraine with onset in childhood. Both have nystagmus which has not changed for many years, but the date of onset is uncertain. They have an asymmetrical tremor, clinically indistinguishable from essential tremor. Neuroophthalmological examination revealed inability to produce smooth pursuit, gaze-paretic nystagmus, rebound nystagmus, failure of fixation suppression of the vestibuloocular reflex both horizontally and vertically, and low gain of the optokinetic system. These abnormalities, confirmed by electrooculography, are commonly seen in disease of the cerebellum and brainstem. Treatment with propranolol and pizotyline lessened the number of episodes of hemiplegia and improved the tremor. Hemiplegic migraine has been reported in association with nystagmus, retinal degeneration, deafness, and ataxia in varying combinations in three other families with autosomal dominant inheritance. These associated neurological manifestations likely represent system degenerations rather than the effect of repeated ischemia imputable to the migraine itself. The syndrome of hemiplegic migraine, tremor, and ocular smooth pursuit system disorder seen in this family appears to be inherited as a single autosomal dominant trait, although more than one autosomal dominant gene may be involved.
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PMID:An autosomal dominant syndrome of hemiplegic migraine, nystagmus, and tremor. 743 78

A chronic progressive neurodegeneration, called hereditary porcine neuronal system degeneration (HPNSD), was recognized in a swine herd in Devon, England. Adult pigs that were presumed carriers of the dominantly inherited trait for HPNSD were transferred from England, where a breeding colony was maintained for 9 years, to the Wyoming State Veterinary Laboratory (WSVL) for study. Two litters of affected piglets were born to 2 carrier sows at the WSVL. Clinical signs of muscular tremors, paresis, or ataxia developed at 12-59 days of age in 4 of 6 liveborn pigs. Three other pigs were stillborn. In the 4 affected liveborn pigs, clinical signs progressed and included symmetrical (3 pigs) or asymmetrical (1 pig) posterior paresis, bilateral knuckling of metatarsal-phalangeal or carpal joints, poor exercise tolerance, and in 1 pig, marked hind limb hypermetria. A 34-kg gilt exhibiting clinical signs of muscular tremors and posterior paresis and clinical signs for 22 days was euthanized and examined postmortem at 83 days of age. Apart from decubitus ulcers, gross lesions were absent. Microscopically, perikaryal vacuolation and osmiophilic lipid droplets were observed in atrophic alpha motor neurons in the spinal cord. There was axonal (Wallerian) degeneration in sulcomarginal and dorsal spinocerebellar tracts. Axonal degeneration also involved ventral but not dorsal spinal nerve roots, and was present in eight peripheral nerves sampled for histopathology. Changes in skeletal muscles were consistent with denervation atrophy and were most pronounced in M. tibialis cranialis of the 6 muscles sampled. Immunohistochemical staining of spinal cord for phosphorylated and nonphosphorylated neurofilaments did not reveal abnormal patterns, unlike some well-characterized inherited motor neuron diseases in other species.
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PMID:An inherited lower motor neuron disease of pigs: clinical signs in two litters and pathology of an affected pig. 801 84

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

Benznidazole (N-benzyl-2-nitro-1-imidazoleacetamide) is an antiprotozoan agent of the nitroimidazole group used extensively in South America to treat Chagas' disease. In humans, its most important side effect is peripheral polyneuropathy, the frequency of which is dose related. To evaluate this effect, we administered benznidazole to adult, male, mongrel dogs at doses ranging from 5 to 40 mg/kg/day (0.5 to 4 times the dose used to treat chagasic patients). Subsequent neurological examination revealed apathy, ataxia, spastic tetraplegia with hyperreflexia of stretching reflexes, balance disorders and asymmetrical gait. These alterations appeared earlier and were more intense at the higher doses. Drug withdrawal also left dose- and time-dependent sequelae like ataxia, hypertonia, hyperreflexia and alterations of balance. No peripheral neuropathy was detected. The present findings suggest that a careful reevaluation of the side effects of benznidazole in humans is necessary.
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PMID:Experimental benznidazole encephalopathy: I. Clinical-neurological alterations. 926 Aug 52

Systemic gentamicin can cause acute bilateral, simultaneous, symmetrical loss of vestibular function manifested by symptoms and signs of chronic vestibular insufficiency (ataxia and oscillopsia). We report 6 patients presenting with ataxia and oscillopsia, but without a history of vertigo, who had severe unilateral loss of vestibular function on caloric testing. The absence of vertigo in these patients could be explained by two possible mechanisms: either, the unilateral loss of vestibular function was subacute, occurring over several days so that compensation could occur, or bilateral vestibular loss occurred which was then followed by asymmetrical recovery of vestibular function. The second hypothesis is supported by the observation that vestibular hair cells can regenerate after aminoglycoside damage.
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PMID:Unilateral vestibulotoxicity due to systemic gentamicin therapy. 972 69

Clinical and MRI appearances were reviewed in 25 cases of acute disseminated encephalomyelitis (ADEM) seen in a university hospital in South India. Specific viral infections and Semple antirabies vaccination together accounted for 56% of antecedent events. Clinical and MRI features were suggestive of diffuse/multifocal form in 15 patients. Of the 10 patients with clinically site restricted forms, two patients with dorsal myelitis and one patient with polyradiculitis had asymptomatic cerebral white matter lesions. MRI was essentially normal in all the four patients with acute ataxia following varicella infection. Of the 13 patients with multiple white matter lesions, lesions were asymmetrical in size and morphology in nine patients and symmetrical in four patients. Two of them had extensive destructive lesions and one patient had multiple discrete lesions. Lesions occurred at the corticomedullary junctions in seven patients. The distribution was subcortical and/or centrum semiovale in 10 patients. The regions affected include internal capsule(s), thalami, brainstem, cerebellar peduncles and cerebellum. No specific differences were observed in patients with ADEM following specific viral infections, Semple antirabies vaccination, and nonspecific upper respiratory tract infections. There was fairly good correlation between clinical and MRI findings in 81% of patients. Patients with incomplete recovery showed extensive and/or multifocal lesions.
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PMID:Acute disseminated encephalomyelitis: clinical and MRI study from South India. 1045 Jul 98


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