Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 17 65

Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria. Vision and optic fundi are normal, verbal intelligence is stable, and no seizures have occurred. The sister of the patients died at 16 years of age with the same illness. Autopsy showed diffuse neuronal storage, predominating in subcortical areas, consisting of membranocytoplasmic bodies, zebra bodies, and complex lamellar structures. GM2 ganglioside was increased in her brain. Hexosaminidase A was decreased in serum and leukocytes of the living patients, and was in the range for carriers of Tay-Sachs disease in their parents. The disease found in this family represents a new, more indolent variant of GM2 gangliosidosis.
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PMID:Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. 17 70

The histological changes produced in peripheral nerve by topical ethyl alcohol have been infrequently studied in spite of widespread use of this neurotoxic agent in the management of pain and spasticity. In the present study the sciatic nerves of a series of albino mice were exposed to ethanol in concentrations of from 10% to 50% for from 15 to 60 seconds. An immediate physiochemical reaction took place, resulting in splitting of myelin sheaths and swelling of cellular organelles and cytoplasm. Nerves subsequently underwent Wallerian degeneration. A central core of fibers appeared to be normal. The longer exposure times or higher alcohol concentrations increased the extent to which the peripheral rim of altered tissue extended centrally into the nerve. Within altered tissue, all fiber types and sizes were found to be affected to an equal degree. To study the physical properties of alcohol in solution, absolute alcohol was slowly placed at the bottom of a cylinder filled with artificial or normal human spinal fluid and sequential levels of the solution were sampled 30 and 60 seconds after injection. Though hypobaric, alcohol dispersed rapidly so that specimens taken from the bottom of the cylinder were 65% as concentrated as specimens taken from the surface.
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PMID:Dilute ethyl alcohol: effect on the sciatic nerve of the mouse. 17 94

The bulbocavernosus reflex was investigated electrophysiologically in 14 normal adult male subjects and in 80 patients with neurogenic bladders and/or impotence due to various neurological causes as well as in patients with functional impotence. The glans penis was stimulated superficially by single electrical shocks and the reflex responses were recorded from the bulbocavernosus (BC) and the striated anal sphincter muscles by means of concentric needle EMG electrodes. In all normal subjects, the BC reflex was recorded from the BC muscle as a stable and constant response having a mean latency of 36.1 msec. A response from the external anal sphincter was obtained in only 21% of the subjects investigated. In 13 patients with cauda equina lesions, the BC reflex was either absent or was present with a prolonged latency. Twenty-two patients with polyneuropathy of various causes were also investigated; in these patients the latency of the BC reflex was significantly greater than in the normal controls, but the most abnormal results were obtained in cases of alcoholic polyneuropathy. In the 19 cases of spinal cord disease with spasticity the BC reflex response was very intense, often with after discharges but latency values were within normal limits. In the 16 cases with functional impotence, the BC reflexes were basically normal; but in 3 cases, the threshold of the reflex was significantly raised, and in 1 case a prolonged latency was observed. The value and the practical application of the BC reflex in the BC reflex in the differential diagnosis of bladder dysfunction and of impotence was stressed.
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PMID:Bulbocavernosus reflex in normal men and in patients with neurogenic bladder and/or impotence. 18 Feb 61

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).
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PMID:[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)]. 18 73

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.
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PMID:Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. 18 51

Patients with spasticity may have similar motor signs and yet have completely different underlying neural mechanisms. This paper reviews some experimental tests which have been developed to detect and analyze excitatory excesses and inhibitory deficits giving rise to the abnormal motor signs of spasticity. Although at the present time these tests may not lend themselves to routine clinical application, their results are creating a body of knowledge which will become the foundation for diagnosis and treatment of spasticity in the future.
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PMID:Spasticity: its physiology and management. Part III. Identifying and assessing the mechanisms underlying spasticity. 19 54

Changes of the H reflex during sleep were studied in 13 children with cerebral palsy (8 with spastic tetraplegia, 2 with a mixed form of cerebral palsy without spasticity, 3 with hypotonic diplegia or tetraplegia). These modifications were compared with those of 5 normal children of the same age. During repeated night recordings, responses in the calf muscle elicited by electrical stimuli to the posterior tibial nerve were studied at the same time as the EEG, EOG and EMG of the mental muscles. The results show that:--in normal children the max H reflex progressively decreases in amplitude from wakefulness to REM sleep; -- in spastic patients there is only a slight decrease in the H reflex in NREM sleep and no significant change in REM sleep; the amplitude of the H reflex is always greater than that in the control group; -- in the dystonic and hypotonic group the results obtained are similar to those of the control group. From these results one may draw the conclusion that in spastic patients as opposed to the control, dystonic and hypotonic groups, normal balance between the function of supraspinal systems regulating the amplitude of the spinal reflexes is alterated probably through the scarce functionality of the supraspinal inhibitory structures.
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PMID:[Changes in the monosynaptic reflex during wakefulness and sleep of children with cerebral paralysis]. 20 34

Lumbar cerebrospinal fluid (CSF) norepinephrine concentrations determined by radioenzymatic assay in four epileptic patients were significantly higher during either chronic unilateral or bilateral cerebellar stimulation than those determined after a 7-day period without stimulation. The mean CSF norepinephrine levels noted during these two modes of cerebellar stimulation were not significantly different. The percentage of increase in CSF norepinephrine in one patient receiving 200/sec stimulation was 3 times higher than those noted in the three patients undergoing 10/sec stimulation. These evoked alterations in norepinephrine metabolism may relate to the reported modulation of spasticity and cerebral neuronal excitability during chronic cerebellar stimulation. Lumbar CSF cyclic adenosine monophosphate levels determined by radioimmunoassay were not significantly altered by either mode or frequency of cerebellar stimulation.
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PMID:Elevations in cerebrospinal fluid norepinephrine during unilateral and bilateral cerebellar stimulation in man. 21 Apr 17

Spasticity may result in part from segmental spinal disinhibition. We determined the content and specific activity of glycine (the putative neurotransmitter thought to mediate spinal postsynaptic inhibition) and serine (the probable precursor of glycine) in feline spastic spinal cord following the intra-aortic administration of two labelled precursors of glycine--14C-D-glucose and 14C-L-serine. The specific activities of both glycine and serine were significantly reduced in the ventromedial, central, and dorsal spinal gray matter in spastic animals. Glycine content remained at control values but serine content increased in spastic spinal cord. This study suggests that glycine turnover decreases in spasticity, owing to its diminished release, and supports neurophysiologic evidence of a decrement in postsynaptic inhibition.
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PMID:Glycine and experimental spinal spasticity. 21 90


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