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)

Motor and sensory nerve conduction and various F-response parameters have been examined in the median and ulnar nerves bilaterally in 22 patients with syringomyelia. Excluding those nerves with isolated peripheral lesions, motor and sensory conduction was normal in the distal nerve segments, except for one subject in whom severe wasting of the muscles was associated with slowed motor velocities. Minimum and/or maximum F-response latencies were increased in one or more nerves in 16 of the 22 cases, which was attributed to disturbed function of anterior horn cells and the intraspinal segment of the motor fibres, or mild subclinical nerve trauma. There was a tendency for F-response amplitude and duration to be increased, probably reflecting the combined effects of spasticity and enlargement of motor units due to reinnervation.
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PMID:F-responses in syringomyelia. 377 92

A 63-year-old woman had suffered from progressive weakness and wasting of the right lower limb for seven years. In the lower limbs, there were profound muscular atrophy and weakness on the right, and mild weakness with spasticity on the left. Muscle strength of the upper limbs was normal. Sensory examination was normal except for paresthesias below the right knee. Anti-HTLV-I antibody titer was raised both in serum and in the CSF. Motor nerve conduction studies of the lower limbs showed small compound muscle action potentials and somewhat slow conduction velocities, more evident in the right side. F-wave was evoked only in the left tibial nerve and its latency was increased. Sensory nerve conduction studies were normal in the lower limbs. Somatosensory evoked potentials (SEPs) after tibial nerve stimulation at the ankles showed increased interpeak latencies between lumbar N20 and scalp P37. Nerve conduction studies in the upper limb were normal. Single fiber electromyography suggested anterior horn involvement not only in the lumbosacral cord but also in the cervical cord. Weakness and spasticity improved after oral administration of prednisolone. The SEPs findings and a favorable response to prednisolone excluded the possibility of amyotrophic lateral sclerosis. This case is a clinical variant of HTLV-I-associated myelopathy presenting profound atrophy of unilateral lower limb.
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PMID:[HTLV-I associated myelopathy presenting with profound atrophy of unilateral lower limb]. 825 34

Plasma amino acid levels were measured following oral glycine loading in 43 patients with motor neurone disease (MND), eight normal subjects and 18 neurological disease controls with wasting or spasticity from a variety of other causes. Levels at baseline and 1.5 h after loading did not differ, but at 4 h, plasma glycine levels in MND patients remained significantly higher than in normal and neurological controls (P < 0.013). Cerebrospinal fluid glycine levels, which were maximal at 2.5 h, were also significantly higher in MND patients than neurological controls (P < 0.04). These observations suggest a defect of glycine 'housekeeping' in the central nervous system in MND which may be relevant to the pathogenesis of the disease.
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PMID:Abnormal glycine metabolism in motor neurone disease: studies on plasma and cerebrospinal fluid. 841 Aug 84

A child had cerebral palsy and linear and whorled nevoid hypermelanosis on the right side of his body. He had spasticity and wasting in both lower limbs, with electroencephalographic changes and brain abnormalities on computerized tomographic scan. Chromosomal study of peripheral blood leukocytes found a normal male karyotype. The pathogenesis of this condition is still unclear.
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PMID:Linear and whorled nevoid hypermelanosis: report of a case associated with cerebral palsy. 912 75

We report a patient with craniovertebral anomaly leading to cervical cord compression who presented with disabling postural hypotension. A 60-year-old electrician presented with progressive weakness of the upper and lower limbs, which had started 7 years previously. He had difficulty in holding urine for the previous year and had blacked out on standing for the past 3 months. He had upper limb wasting and lower limb spasticity, with impaired joint position sense. Autonomic dysfunctions included postural hypotension, absence of sinus arrhythmia, impaired Valsalva ratio, and lack of increase in blood pressure on cold immersion and isometric contraction. Cervical spine radiograph and magnetic resonance imaging revealed atlantoaxial dislocation, Klippel-Feil syndrome and osteophytes, resulting in cord compression at C2-C4. Partial and selective damage to the descending autonomic fibres may be responsible for postural hypotension in this patient.
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PMID:Postural hypotension in a patient with cervical myelopathy due to craniovertebral anomaly. 937 68

Motor neurone disease is a rapidly progressive neurodegenerative disorder, characterized by muscular weakness and wasting with fasciculation and by spasticity. While most cases are sporadic, approximately 10% are inherited in an autosomal dominant mode. Recently, mutations in the gene encoding the free-radical scavenging enzyme superoxide dismutase-1 have been found to segregate with the disorder in 20% of familial cases. This is an exciting development, as free radical damage has long been implicated in the pathogenesis of motor neurone disease and it raises the possibility of novel therapeutic approaches in this otherwise fatal condition.
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PMID:Mechanisms in motor neurone disease: clues from genetic studies. 941 57

The hereditary spastic paraplegias are a clinically variable and genetically heterogeneous group of disorders characterized by progressive and lower limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling autosomal dominant form of the disease in which there is associated wasting of the hand muscles. In view of the fact that genes for hereditary spastic paraplegia can produce highly variable phenotypes, the eight known autosomal dominant loci were investigated for linkage to Silver syndrome. Genotyping of these loci in two large multigenerational families was incompatible with linkage to any of these regions, suggesting that an additional locus is responsible for this syndrome.
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PMID:Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. 1147 Nov 75

The major psychoactive constituent of Cannabis sativa, delta(9)-tetrahydrocannabinol (delta(9)-THC), and endogenous cannabinoid ligands, such as anandamide, signal through G-protein-coupled cannabinoid receptors localised to regions of the brain associated with important neurological processes. Signalling is mostly inhibitory and suggests a role for cannabinoids as therapeutic agents in CNS disease where inhibition of neurotransmitter release would be beneficial. Anecdotal evidence suggests that patients with disorders such as multiple sclerosis smoke cannabis to relieve disease-related symptoms. Cannabinoids can alleviate tremor and spasticity in animal models of multiple sclerosis, and clinical trials of the use of these compounds for these symptoms are in progress. The cannabinoid nabilone is currently licensed for use as an antiemetic agent in chemotherapy-induced emesis. Evidence suggests that cannabinoids may prove useful in Parkinson's disease by inhibiting the excitotoxic neurotransmitter glutamate and counteracting oxidative damage to dopaminergic neurons. The inhibitory effect of cannabinoids on reactive oxygen species, glutamate and tumour necrosis factor suggests that they may be potent neuroprotective agents. Dexanabinol (HU-211), a synthetic cannabinoid, is currently being assessed in clinical trials for traumatic brain injury and stroke. Animal models of mechanical, thermal and noxious pain suggest that cannabinoids may be effective analgesics. Indeed, in clinical trials of postoperative and cancer pain and pain associated with spinal cord injury, cannabinoids have proven more effective than placebo but may be less effective than existing therapies. Dronabinol, a commercially available form of delta(9)-THC, has been used successfully for increasing appetite in patients with HIV wasting disease, and cannabinoid receptor antagonists may reduce obesity. Acute adverse effects following cannabis usage include sedation and anxiety. These effects are usually transient and may be less severe than those that occur with existing therapeutic agents. The use of nonpsychoactive cannabinoids such as cannabidiol and dexanabinol may allow the dissociation of unwanted psychoactive effects from potential therapeutic benefits. The existence of other cannabinoid receptors may provide novel therapeutic targets that are independent of CB(1) receptors (at which most currently available cannabinoids act) and the development of compounds that are not associated with CB(1) receptor-mediated adverse effects. Further understanding of the most appropriate route of delivery and the pharmacokinetics of agents that act via the endocannabinoid system may also reduce adverse effects and increase the efficacy of cannabinoid treatment. This review highlights recent advances in understanding of the endocannabinoid system and indicates CNS disorders that may benefit from the therapeutic effects of cannabinoid treatment. Where applicable, reference is made to ongoing clinical trials of cannabinoids to alleviate symptoms of these disorders.
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PMID:Therapeutic potential of cannabinoids in CNS disease. 1261 97

Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of the lower limbs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. The disease locus has been mapped to chromosome 11q12-q14. We report four Austrian families presenting with the typical clinical features of Silver syndrome. Sixteen individuals were affected upon clinical and/or electrophysiological examination. Ten persons showed mild to severe spasticity of the lower limbs. Wasting of the small hand muscles was present in nine affected family members of whom three had also gait disturbance. Three further individuals were asymptomatic. Electrophysiological studies showed normal or slightly to moderately slowed motor nerve conduction velocities, reduced amplitudes and occasionally chronodispersion of compound motor action potentials. In one patient, conduction block was observed. Sensory nerve action potentials were usually normal. Molecular genetic studies demonstrate linkage to chromosome 11q12-q14. Haplotype analysis in affected individuals indicates a common ancestor in the four families. By recombination analysis in affected individuals the Silver syndrome candidate gene interval can be reduced from 13 to 5.9 cM and can now be placed between the markers D11S1765 and D11S987. By sequence analysis of affected individuals eight functional and positional candidate genes could be excluded. Our study confirms the existence of the Silver syndrome locus on chromosome 11q12-q14 and provides the first report of nerve conduction velocity studies in Silver syndrome, which demonstrate the presence of a peripheral predominantly motor neuropathy.
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PMID:Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. 1368 Mar 64

Amyotrophic lateral sclerosis (ALS) produces progressive weakness, muscular wasting, and spasticity leading to death from respiratory failure at a median of 3 years after onset. ALS and frontotemporal dementia (FTD) overlap in both familial and sporadic cases of ALS. When both occur in families, the affected members may have only ALS, only FTD, or both. This suggests a relationship in the cause of these disorders. We investigated the frequency of ALS in FTD patients and of FTD in ALS patients and found the overlap to be more common than had previously been reported. We report the features of cognitive impairment and pattern of motor involvement in these ALS-FTD patients, and the degree of overlap in both populations.
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PMID:Characterization of amyotrophic lateral sclerosis and frontotemporal dementia. 1517 49


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