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)

Spinocerebellar ataxial 1 (SCA1) is the locus name of autosomal dominant olivopontocerebellar atrophy (OPCA), and is assigned to the short arm of chromosome 6. The tight linkage between SCA1 and D6S89 has recently been reported. In order to examine possible locus heterogeneity, we studied linkage for D6S89 to disease loci in 16 pedigrees of dominant OPCA. D6S89 polymorphism was analysed with PCR amplification of genomic DNA by using specific oligonucleotide primers. Lod scores were computed by LIPED program with the correction of age-dependent penetrance. Homogeneity test was performed by using HOMOG program. Fifteen out of 16 pedigrees were informative to D6S89. Among them, 7 pedigrees showed positive and 8 pedigrees showed negative lod scores throughout all recombination fractions. Homogeneity testing disclosed that approximately 55% of pedigrees are linked to D6S89, and others were not linked. Our results provide evidences that dominant OPCA in Japan are genetically heterogenous. At now, it has been still unknown whether there are any clinico-pathological differences among OPCA genotypes. Based on the alpha-constant from homogeneity testing, we divided our pedigrees into linked-pedigree (SCA1) and nonlinked-pedigrees (nonSCA1). Then, clinical features were compared between these two groups. Hyperactive DTR was more common in SCA1 than nonSCA1 group. On the other hand, hypoactive DTR was more significantly dominated in nonSCA1 than SCA1. Slow saccade and Babinski sign were common in both groups. Although not statistically significant, nystagmus, exteral ophthalmoparesis, mydriasis, ptosis, facio-lingual twitching, and limb spasticity were more frequently observed in SCA1 than nonSCA1. These results indicate that there are possible correlation between disease genotype and phenotype.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Linkage study of hereditary olivopontocerebellar atrophy: genetic evidence for locus heterogeneity in Japanese cases]. 162 32

From the linkage study of D6S89, we previously reported that hereditary OPCA in Japan is genetically heterogenous. Two pedigrees, P2 and P35, reported in this report, were not linked to D6S89. In order to examine possible correlation between OPCA genotypes and disease phenotypes, we studied clinically eight cases in these two pedigrees. One autopsied case in pedigree P2 was proven to have marked neuronal degeneration in the inferior olivary nuclei, pontine nuclei, cerebellar cortex, and substantia nigra. Dentate nucleus and oculomotor nuclei were free from neuronal degeneration. Clinical features of those 8 patients were fairly uniform, characterized by cerebellar ataxia, hypoactive DTR, and slow eye movement. Parkinsonism or choreiform movements were observed in one patient, respectively. Pupillary dilatation, twitching of face and tongue, limb amyotrophy were observed in patients of advanced stages. However, these signs were not dominating nor common throughout clinical course. None of our cases showed hyperactive DTR, limb spasticity, or external ophthalmoparesis. On the other hand, these latter signs were popular in SCA1 so far as reviewing the literature. The present study showed that there was possible correlation between genotypes and phenotypes in hereditary OPCA.
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PMID:[Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA)--report of 2 pedigrees affected with non SCA1 type OPCA]. 181 83

Spasticity associated with abnormal muscle tone is a common motor disorder following stroke, and the spastic ankle may affect ambulatory function. The purpose of this study was to investigate the short-term effect of dynamic-repeated-passive ankle movements with weight loading on ambulatory function and spastic hypertonia of chronic stroke patients. In this study, 12 chronic stroke patients with ankle spasticity and inefficient ambulatory ability were enrolled. Stretching of the plantar-flexors of the ankle in the standing position for 15 minutes was performed passively by a constant-speed and electrically powered device. The following evaluations were done before and immediately after the dynamic-repeated-passive ankle movements. Spastic hypertonia was assessed by the Modified Ashworth Scale (MAS; range, 0-4), Achilles tendon reflexes test (DTR; range, 0-4), and ankle clonus (range, 0-5). Improvement in ambulatory ability was determined by the timed up-and-go test (TUG), the 10-minute walking test, and cadence (steps/minute). In addition, subjective experience of the influence of ankle spasticity on ambulation was scored by visual analog scale (VAS). Subjective satisfaction with the therapeutic effect of spasticity reduction was evaluated by a five-point questionnaire (1 = very poor, 2 = poor, 3 = acceptable, 4 = good, 5 = very good). By comparison of the results before and after intervention, these 12 chronic stroke patients presented significant reduction in MAS and VAS for ankle spasticity, the time for TUG and 10-minute walking speed (p < 0.01). The cadence also increased significantly (p < 0.05). In addition, subjective satisfaction with the short-term therapeutic effect was mainly good (ranging from acceptable to very good). In conclusion, 15 minutes of dynamic-repeated-passive ankle joint motion exercise with weight loading in the standing position by this simple constant-speed machine is effective in reducing ankle spasticity and improving ambulatory ability.
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PMID:Effect on spasticity after performance of dynamic-repeated-passive ankle joint motion exercise in chronic stroke patients. 1711 22