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)

In the context of the intraoperative study of spinal cord surface evoked potentials in patients operated upon for chronic pain and spasticity, we have undertaken an analysis of the dipolar dorso-ventral organization of surface spinal cord evoked potentials in man. Averaged evoked potentials to peripheral nerve electrical stimulations were obtained from the dorsal and ventral pial surface of the cervical and lumbo-sacral spinal cord (7 pairs from 5 patients), using a small silver ball macroelectrode, positioned during open neurosurgical approaches. We found that the dorsally recorded N13 and N24 waves reversed into ventral P13 and P24 waves respectively. A second negative potential, N2, and a late prolonged positivity, P, similarly reversed into a P2 and an N wave respectively. Our data add up to a collection of skin, oesophageal, epidural, pial and intramedullary recordings in man and animals to provide the evidence for a transverse dipolar organization of the human postsynaptic N13, N24 and N2 potentials, originating from deep layers of the cord dorsal horn, and for a similar organization of the P wave, which has been shown to correlate with presynaptic inhibition on primary afferent fibres.
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PMID:Three transverse dipolar generators in the human cervical and lumbo-sacral dorsal horn: evidence from direct intraoperative recordings on the spinal cord surface. 247 May 80

Familial spastic paraparesis with amyotrophy of the hands was reported, and its significance in the literature was reviewed. Case 1: An 18 year-old boy, who had been suffering from spastic gait since 12 years old, noticed his hand muscle wasting distributed bilateral first interosseous muscle, thenar and hypothenar muscle at age 17. Case 2: A 20 year-old man, elder brother of case 1, who also walked in spastic manner from his childhood, developed bilateral hand muscle atrophy similar to case 1 at age 19. Clinical features of these two cases could be summarized as familial spastic paraparesis with amyotrophy characterized by hand muscle atrophy, spasticity of lower extremities with hyperreflexia and bilateral positive pathological reflexes and spastic gait. Their younger sister was also examined, who showed only minimal spastic paraparesis. The electrophysiological examination including EMG and SEP suggested the pathological process could involve not only lateral column, but also posterior column and anterior horn. Slight but generalized spinal cord atrophy was demonstrated on metrizamide CT myelography. The muscle biopsy performed from left gastrocnemius in case 2, confirmed neurogenic changes. Although the association of retinal degeneration, cataracta, mental retardation, pes cavus or even generalized amyotrophy has been reported in familial spastic paraparesis, only limited cases are available, dealing with the amyotrophy of limbs. As far the cases with amyotrophy localized to the hands are concerned, it is absolutely rare and only the cases reported by Silver could be regarded as similar or same clinical entities to our cases.
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PMID:[Two cases of familial spastic paraparesis with amyotrophy of the hands]. 267 23

We have undertaken the intra-operative study of spinal cord surface evoked potentials in patients operated upon for pain and/or spasticity using the microsurgical DREZ-tomy (MDT) procedure. The goals of this work were 1) to collect data on spinal cord evoked potential components and 2) to analyze the effects of MDT on spinal cord physiology. The MDT consists of a therapeutic lesion in the ventro-lateral aspect of the dorsal root entry zone, directed to the activatory circuitry, and aiming at returning the dorsal horn physiology towards inhibition. Averaged evoked potentials to peripheral nerve electrical stimulations were obtained from various loci on the surface of the dorsal columns of the cervical and lumbo-sacral spinal cord in 19 patients, using a small uninsulated silver ball electrode. An initial far-field positivity was found, corresponding to a compound action potential in the proximal part of the brachial (or lumbo-sacral) plexus. Pre-synaptic compound action potentials were identified, most often composed of multiple successive sharp peaks. A post-synaptic field potential generated in the dorsal horn was recognized. The MDT caused an immediate and irreversible decrease of amplitude down to a disappearance of the dorsal horn potential. This decrement was proportional to the amount of operated cord segments. In contrast, there has been a relative post-MDT sparing of the pre-synaptic action potentials originating from the operated cord segments, and the scalp contralateral parietal N 20 has been only reversibly affected by the therapeutic lesion. We thus argue for a specific involvement of dorsal horn physiology by the MDT, with a relative sparing of the dorsal column system.
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PMID:Intra-operative spinal cord evoked potentials during cervical and lumbo-sacral microsurgical DREZ-tomy (MDT) for chronic pain and spasticity (preliminary data). 277 87

A 57-year-old man had exhibited cortical sensory disturbance, rigidity, spasticity, dementia, alien hand, grasp reflex, supranuclear ophthalmoplegia, pseudobulbar palsy, and neck dystonia for 4 years. Histological examination of autopsied specimens revealed neuronal loss in the cerebral cortex, with ballooned neurons, subthalamic nucleus, substantia nigra, basal ganglia, midbrain tegmentum, and the thalamus. There were neurofibrillary tangles in the subthalamic nucleus and the substantia nigra. Gallyas-Braak silver impregnation demonstrated numerous argentophilic tangles, threads, and a few argentophilic glia in the cerebral cortex, subcortical white matter, particularly in the precentral gyrus, subcortical nuclei, and the brainstem. These argentophilic structures were largely positive for tau, and negative for ubiquitin, paired helical filaments, and phosphorylated neurofilament. Ultrastructurally, 15-nm-wide straight tubules were observed in the neurons of the substantia nigra, globus pallidus, and the precentral cortex, coexisting with a few twisted tubules periodically constricted at 160- to 230-nm intervals. It was conclusively shown that Gallyas- and tau-positive cytoskeletal abnormalities occurred widely in brain of corticobasal degeneration. Both distribution and morphology of abnormal phosphorylated tau protein in corticobasal degeneration appear to resemble these features in progressive supranuclear palsy. These findings suggest a common cytoskeletal etiopathological significance in corticobasal degeneration and progressive supranuclear palsy.
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PMID:Corticobasal degeneration: widespread argentophilic threads and glia in addition to neurofibrillary tangles. Similarities of cytoskeletal abnormalities in corticobasal degeneration and progressive supranuclear palsy. 879 Dec 41

Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.
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PMID:Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. 1973 24

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= 5/11 patients) including a Silver-like syndrome in one patient, and less frequently cerebellar ataxia, tremor, dementia. Interestingly, we evidenced abnormal mitochondrial network organization in fibroblasts of one patient in addition to defective mitochondrial energy production in both fibroblasts and muscle, but whether these anomalies are directly or indirectly related to the mutations remains uncertain.
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PMID:REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. 2161 48