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)

Four cerebral-palsied children participated in the following ABAB design: speech and motor pre-electrophysiologic behavior modification (EMB) evaluation; frontal EMG EMB, six weeks; speech and motor post-EBM evaluation; six weeks no training; speech and motor reevaluation; EMG EBM, four weeks; speech and motor evaluation. Auditory and visual feedback of frontal EMG was monitored by cumulative integration of frontal EMG voltage. The children were shaped by setting a cumulative voltage threshold (CVT). If the child's cumulative integrated frontal EMG voltage fell below the CVT at the end of each 60-sec epoch, a reward was automatically dispensed from a Universal Feeder. Frontal EMG decreased significantly over the initial twelve trials. Correspondingly, improvement was noted for the children in speech and motor skills. Follow-up six weeks later showed increased frontal EMG voltage and deterioration of speech and motor function. Reinstitution of frontal EMG EBM produced reacquisition of low frontal EMG and some recovery of speech and motor function. Collectively, these results indicate that frontal EMG EBM shows promise as an additional treatment modality in the habilitation of cerebral palsy children with spasticity.
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PMID:Electrophysiologic behavior modification of frontal EMG in cerebral-palsied children. 88 Mar 17

SPG3A-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other neurological abnormalities. SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract. However, there is still a debate about the etiology of this motor deficit with regard to whether it is peripheral or central. We herein report two patients who were heterozygous for a R239C mutation in the SPG3A gene. Two middle-aged Japanese sisters had been suffering from a pure phenotype of HSP since their childhood. Both patients had a significant decrease in glucose metabolism in the frontal cortex medially and dorsolaterally in a [(18)F]-fluorodeoxyglucose (FDG) positron emission photography (PET) study and low scores on the Frontal Assessment Battery. A real-time PCR analysis in normal subjects showed the frontal cortex to be the major location where SPG3A mRNA is expressed. The present finding that the frontal glucose hypometabolism was associated with frontal cognitive impairment indicates that widespread neuropathology associated with mutations in the SPG3A gene may be present more centrally than previously assumed.
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PMID:SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism. 2323 86