Search results for "Spastic"
showing 10 items of 65 documents
Retrospective review of L3 myelomeningocele in three age groups: should posterolateral iliopsoas transfer still be indicated to stabilize the hip?
2005
The data from 58 hips in 29 myelodysplastic children with L3 paralysis has been reviewed retrospectively. Posterolateral transfer of the iliopsoas (Sharrard technique) was performed on all hips to correct muscle imbalance between 1975 and 1992. The average length of follow-up was 21 years. Preoperatively, 58.6% of the hips were either subluxated or dislocated (these were surgically reduced at the same stage). Radiological assessment revealed that 91.4% of the hips were stable at preschool age and 84.5% in adolescence. Of the patients 86% were functional walkers at preschool age and 75.8% in adolescence. Downward transitions in seven patients were related to the presence of scoliosis, spasti…
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
2009
Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 ( spatacsin ) and SPG15 ( spastizin ), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia. Objective: To compare the frequency of SPG11 and SPG15 in patients with early onset complicated HSP and to further characterise the phenotype of SPG11 and SPG15. Results: A sample of 36 index patients with early onset complicated HSP and …
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation
2007
We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced pe…
Effectiveness of Dry Needling in the Management of Spasticity in Patients Post Stroke.
2020
Abstract Objective: To determine the effectiveness of the dry needling technique (DNT) in the treatment of spasticity for individuals with stroke. Design: We reviewed the Embase, Pubmed/MEDLINE, Web of Science and Cochrane Central Register of Controlled Trials (CENTRAL) databases. We also performed a manual search of the references that are included in the selected articles. Studies included were: i) randomized clinical trials (RCTs); ii) involving patients with a diagnosis of stroke; and iii) using DNT alone or in a multimodal treatment. Muscular spasticity was the primary outcome of the study. The additional outcomes included were: pressure pain sensitivity, range of motion and perception…
Modulation of spinal cord excitability by subthreshold repetitive transcranial magnetic stimulation of the primary motor cortex in humans.
2001
Repetitive transcranial magnetic stimulation (rTMS) allows the modulation of intra-cortical excitability and may therefore affect the descending control of spinal excitability. We applied rTMS at subthreshold intensity and 1 Hz frequency for 10 min to the left primary motor cortex representation of the flexor carpi radialis muscle (FCR) in 10 subjects and assessed the H and M responses to median nerve stimulation before and after the rTMS. Following rTMS, H wave thresholds significantly reduced by ∼20%. Maximal H but not M wave amplitude significantly increased over the baseline, so that H/M amplitude ratio was increased by 41%. Sham stimulation did not induce any noticeable change in M or …
Stance control is not affected by paresis and reflex hyperexcitability: the case of spastic patients.
2001
OBJECTIVES Spastic patients were studied to understand whether stance unsteadiness is associated with changes in the control of voluntary force, muscle tone, or reflex excitability, rather than to abnormal posture connected to the motor deficit itself. METHODS Twenty four normal subjects, 12 patients affected by amyotrophic lateral sclerosis (ALS), seven by spastic paraparesis, and 14 by hemiparesis were studied. All patients featured various degrees of spasticity and paresis but were free from clinically evident sensory deficits. Body sway during quiet upright stance was assessed through a stabilometric platform under both eyes open (EO) and eyes closed (EC) conditions. The sudden rotation…
Deteriorated stabilization of walking in individuals with spastic cerebral palsy revealed by a simulated tripping perturbation
2014
Abstract. The aim of this study was to make use of a pr eviously introduced method of a simulated tripping perturbation to examine stability of walking in individuals with and with out cerebral palsy. This tripping perturbation is a forward-dynamics analys is, and it works so that in a subjec t-specific muscle-driven simulation of walking, created from experimental gait data, a force is applied to the swin g-foot, and resulting changes in the kinematics are observed. Here, changes in the fore-aft position of the trunk were analyzed. Subjects were 10 children with spastic diplegic cerebral palsy and eight un impaired children walking at their self-sel ected speed. Several tripping perturbati…
Wearable electromyography recordings during daily life activities in children with cerebral palsy.
2020
To test whether wearable textile electromyography (EMG) recording systems may detect differences in muscle activity levels during daily activities between children with cerebral palsy (CP) and age-matched typically developing children.Wearable textile EMG recording systems were used to obtain leg muscle activity in 10 children with spastic CP (four females, six males; mean age 9y 6mo, standard deviation [SD] 2y 4mo, range: 6-13y; Gross Motor Function Classification System [GMFCS] level I and II) and 11 typically developing children (four females, seven males; mean age 9y 9mo, SD 1y 11mo, 7-12y) at rest and while performing seven daily activities.Children with CP showed significantly lower a…
Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists
2014
The purpose of this study was the generation of central nervous system (CNS)-excluded cannabinoid receptor agonists to test the hypothesis that inhibition of spasticity, due to CNS autoimmunity, could be controlled by affecting neurotransmission within the periphery. Procedures included identification of chemicals and modeling to predict the mode of exclusion; induction and control of spasticity in the ABH mouse model of multiple sclerosis; conditional deletion of CB1 receptor in peripheral nerves; side-effect profiling to demonstrate the mechanism of CNS-exclusion via drug pumps; genome-wide association study in N2(129×ABH) backcross to map polymorphic cannabinoid drug pump; and sequencing…