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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One strategy for deciphering inherited neurological disease is to examine the expression of individual genes controlling the assembly and physiology of specific cell groups within the developing mammalian central nervous system (CNS). This neurogenetic approach, using defined single-locus mutations arising on coisogeneic mouse strains, has recently been used to analyse a major class of neuronal membrane diseases involving abnormal excitability, the epilepsies, and to identify examples of hereditary variation in signalling properties at central synapses. An interesting mutation, the Tottering (tg) gene, causes a delayed onset, recessive neurological disorder in the mouse featuring a stereotyped triad of ataxia, intermittent myoclonus and cortical spike-wave discharges accompanied by behavioural absence seizures which resemble petit mal epilepsy. Axon branches of the locus coeruleus, a noradrenergic brain-stem nucleus, hyperinnervate specific target regions of the tg brain. The number of parent coerulean perikarya is unaffected, indicating a true proliferation of the terminal axonal arbor. With the exception of this unusually precise error of axonal growth, no other cytopathology has been identified in the tg brain. Here I present evidence that selective lesions of the central noradrenergic axons early in development limit the expression of the disease.
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PMID:A single gene error of noradrenergic axon growth synchronizes central neurones. 646 26

We report a case of identical twins with progressive sensorineural hearing loss, myoclonus, intention tremor, and ataxia. The involved member of the family may suggest of autosomal dominant transmission with variable penetrance.
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PMID:Familial syndrome of deafness, myoclonus, and cerebellar ataxia. 653 56

Rats were exposed by inhalation to extremely high concentrations of toluene vapors twice daily for six weeks, as an animal model of organic solvent abuse. At preset intervals during repeated exposure, the rats were exposed to test concentrations of toluene and effects on behavior in an open field were measured. Concentration-effect curves were determined during Weeks 4 to 6 of repeated exposure. Tolerance to toluene was measured as a decreased response to the test exposure and a shift of the concentration-effect curve to the right. Reverse tolerance was measured as an increased response to the test exposure and a shift shift of the concentration-effect curve to the left. Results demonstrated that the effects of repeated exposure to toluene showed behavioral selectivity: tolerance developed to ataxia, hindlimb myoclonus, and inhibition of rearing, whereas reverse tolerance developed to headshakes and increased locomotor activity.
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PMID:Tolerance and reverse tolerance to toluene inhalation: effects on open-field behavior. 654 28

A chronic progressive neurologic disease was observed and monitored for 18 months in a young, tamed Bengal tiger. Clinical, serologic, and neuropathologic evidence of canine distemper virus infection was seen. Clinical signs included convulsions, myoclonus, and slowly progressive ataxia. Marked increases in neutralizing antibodies against canine distemper virus were seen in the serum and cerebrospinal fluid. Neuropathologic findings were nonsuppurative meningoencephalomyelitis, with perivascular cuffing, demyelination, and inclusion bodies typical of canine distemper virus. It was concluded that, in light of this case and an earlier report of canine distemper in lion cubs, vaccination of this subgroup of carnivores with a killed vaccine may be beneficial if exposure to other animals susceptible to canine distemper is anticipated.
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PMID:Chronic encephalomyelitis caused by canine distemper virus in a Bengal tiger. 668 17

The clinical symptoms of cerebellar dysfunction are reviewed in relation to modern concepts of cerebellar physiology. Special attention is given to their topodiagnostical significance. Hypotonia, hyporeflexia, asthenia, delayed onset and offset as well as slowing of voluntary movement, ataxia, dysmetria, tremor and myoclonus result from damage of the lateral cerebellar hemispheres and the dentate nucleus. Three different key patterns of postural ataxia result from lesions of the anterior lobe, the vermal part of the vestibular cerebellum and dysfunction of cerebellar afferences respectively. The long latency response (M3) is significantly prolonged in patients with anterior lobe atrophy. Oculomotor symptoms mainly result from either lesions of the cerebellar flocculus, causing dysfunction of retinal-image stabilization or from damage to the dorsal vermis (VI and VII) and the fastigial nuclei, resulting in saccadic dysmetria.
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PMID:Clinical symptoms of cerebellar dysfunction and their topodiagnostical significance. 671 11

In recent years, there have been described a number of patients with beta-galactosidase and neuraminidase deficiency of juvenile onset. The clinical features in these patients are myoclonus, cherry-red spots, insidious visual loss, corneal clouding, gargoyle like appearance and ataxia. The condition appears to be transmitted as an autosomal recessive trait. Pathologically it has been characterized that there are vacuolation of lymphocytes, and inclusion bodies such as concentric membranous bodies in the ganglion cells of the rectum. Here we report a patient with beta-galactosidase and neuraminidase deficiency of juvenile onset in whom unusual "fingerprint" profiles were obtained in the submucosal ganglion cells in the rectum and will discuss the clinical significance of the inclusion bodies.
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PMID:Adult type beta-galactosidase and neuraminidase deficiency in three siblings. 674 51

A report is given of an association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in 2 patients. They had suffered from gradually increasing bursts of myoclonus since the wage of 14 and childhood, respectively. The other striking clinical features included generalized convulsions, mental deterioration, intention tremor, ataxia, muscular atrophy and deformity of feet. Muscle biopsies revealed ragged-red fibres in both cases. On electron microscopy these fibres contained subsarcolemnal aggregations of abundant abnormal mitochondria with proliferation of inner membranes or paracrystalline inclusions. One of these patients showed elevated blood lactate and pyruvate with an increased lactate/pyruvate ration, apparently of primary origin. These 2 cases resemble those reported briefly by Tsairis et al. (1974). An association of dyssynergia cerebellaris myoclonica associated with Friedreich's ataxia and mitochondrial myopathy in these 2 patients is unlikely to be coincidental but may represent one nosological entity. This myoclonus epilepsy syndrome associated with ragged-red fibres is compared with other possibly related mitochondrial encephalomyopathies.
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PMID:Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. 677 61

Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidose activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with GM1 gangliosidosis, Type 1 did not show complementation of beta-galactosidase activity. However, when the cells from the patient were hybridized with cells from a patient with combined sialidase and beta-galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry-red spots, which are found in most patients with combined sialidase and beta-galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult GM1 gangliosidosis.
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PMID:Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. 677 95

A 20-year-old woman developed ataxia, extrapyramidal movements, myoclonus, and progressive dementia. Brain biopsy disclosed status spongiosus, diagnostic of Creutzfeldt-Jakob disease; this is the youngest spontaneous case ever reported. Creutzfeldt-Jakob disease can occur in young adulthood.
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PMID:Creutzfeldt-Jakob disease in a 20-year-old woman. 698 35

A 15 year old boy was evaluated in the psychiatric emergency room for the acute onset of "confusion,"insomnia, headache, and shaking of one week's duration. Two days later hallucinations, formication and a movement disorder emerged characterized by action tremor, myoclonus, chorea and ataxia. Further history revealed inhalation of gasoline for its euphoric effects. Plasma lead levels were in the toxic range. Chelation therapy reversed the clinical symptoms. Behavioral changes and a movement disorder in the context of gasoline inhalation are highly suggestive of organic lead encephalopathy. Recognition of this syndrome is important as chelation therapy is effective.
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PMID:Organic lead encephalopathy: behavioral change and movement disorder following gasoline inhalation. 705 7


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