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PubMed1997

Evidence of a third locus in X-linked recessive spastic paraplegia.

We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.

DNA-Binding Proteins↗
PubMed1999

Limited (L4-S1, L5-S1) selective dorsal rhizotomy for reducing spasticity in cerebral palsy.

Selective posterior rhizotomy is effective for relieving spasticity associated with cerebral palsy. In current techniques dorsal roots from L1/L2 to S1/S2 are selectively divided. With transoperative electromyography (EMG) significant sensory loss has been prevented, but postoperative hypotonia following excessive reduction of the fusimotor drive is still of concern for surgeons and therapists. To decrease the volume of deafferentiated rootlets we proposed a limited selective posterior rhizotomy (LPSR) that limits the extent of the surgery to three (L4-S1) or two (L5-S1) dorsal roots. We present the results of two group of spastic children; group 1 (n = 59, 32 quadriplegic and 27 diplegic) who had a L4-S1 LPSR, and group 2 (n = 12) in whom L5 and S1 were selectively rhizotomized. Posture, passive movilization, range of joint movement, and muscle tone in hip flexors, adductors, leg flexors and plantar flexors were graded according to the method proposed by Sindou and Jeanmonod. In all groups these was a significant reduction of the mentioned parameters (Friedman test p < 0.001) at 6, 12 and 18 months after surgery. The preoperative and postoperative ability to ambulate was classified into five grades. In all groups there was a significant (chi 2 between p < 0.01 and p < 0.001) improvement in the quality of their gait. A third of the patients achieved some form of independent ambulation. Our results suggest that extensive selective deafferentation of the lower limbs is not an absolute requisite for reducing muscle tone or achieving functional improvement in spastic children.

Cerebral Palsy↗
PubMed2005

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterised by lower limb spasticity and weakness. Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) have recently been identified as a cause of autosomal dominant pure HSP, with one mutation described in two unrelated families. NIPA1 has no known function but is predicted to possess nine transmembrane domains and may function as a receptor or transporter. Here we present a large British pedigree in which linkage analysis conclusively demonstrates linkage to the NIPA1 locus (maximum multipoint LOD score 4.6). Subsequent mutation analysis identified a novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia.

Adolescent↗
PubMed2001

Botulinum toxin for the management of muscle overactivity and spasticity after stroke.

Stroke is a major cause of disability involving the arm and leg. This disability results from the upper motoneuron syndrome (UMN) evident after stroke. It is commonly associated with spasticity and muscle overactivity, which can lead to abnormal limb posturing that interferes with active and passive function. The origin of limb deformity in patients with UMN is based on the concept of unbalanced agonist and antagonist muscle forces acting across joints. In the past decade, botulinum toxin A (BTX-A) a new medication that modifies muscle force and, hence, can treat muscle imbalance, has become available and has renewed interest in the management of muscle overactivity and spasticity after stroke. A reduction in muscle tone, painful spasms, and improved functionality can be obtained. Research and clinical reports support the concept that chemodenervation with BTX-A is an excellent intervention for treating focal muscle overactivity and spasticity secondary to stroke. Many muscles differing in size, shape, and location have been injected, and clinical effectiveness is particularly notable in elbow flexors, ankle plantar flexors, and smaller limb muscles, such as intrinsics of the hand and wrist. Smaller muscles are readily accessible for injection and require smaller amounts of toxin.

Botulinum Toxins↗
PubMed1988

Treatment of spinal spasticity by electrical stimulation.

We present the results and the methodology of trials using transcutaneous electrical stimulation. The aim of our work was to decrease spasticity in 44 patients with traumatic damage to the spinal cord; 35 non-electrically stimulated spastics were used as controls. Both groups were randomly selected from inpatients in the Paraplegic Department at the Hospital Rehabilitation Centre. This electrical stimulation procedure leads to a long-lasting reduction in spasticity, an increased range of passive and active movements, the facilitation of lost functions, an improvement in breathing, an increase in pulmonary capacity, the reappearance of some neurological reflexes, and a diminution of supersensitivity to skin irritation. Blood pressure and neurogenic bladder functions were restored to normal. In addition to clinical observations, we investigated muscle force and the electromyogram; other measurements used in the trials involved the use of a specially adapted neurological hammer, a pendulum test, spirometry, cystometry, sphincterometry and biochemical estimations.

Adult↗
PubMed1993

Functional outcome of upper limb tendon transfers performed in children with spastic hemiplegia.

Children with spastic hemiplegia often present with upper limb muscle imbalance. The purpose of this paper was to determine whether reconstructive surgery improved their functional ability. 17 children under the age of 16 years with spastic hemiplegia underwent reconstruction that included tendon transfers, tendon lengthenings and thumb metacarpophalangeal fusion. They were assessed pre-operatively and at an average follow-up period of 2.6 years. Children's abilities were classified according to House's functional rating scale. Tendon transfers improved functional grading by two grades, from good passive assist to fair active assist. Improvement in the arc of wrist motion and forearm rotation was also seen. Parental satisfaction was high. Reconstructive surgery improved the functional abilities in this group of children with spastic hemiplegia.

Adolescent↗
PubMed1992

Intrauterine growth and spastic cerebral palsy II. The association with morphology at birth.

This study tests the hypothesis that children with spastic cerebral palsy had different birth morphologies, defined in terms of their weight, length, head circumference, ponderal index and length to head circumference ratio, from that of the normal liveborn population. An earlier study showed a highly significant association of spastic cerebral palsy with low birthweight for gestational age in infants over 34 weeks gestation at delivery. This analysis defines morphological measurements as "abnormal" if not within the 10th-90th percentile ranges of appropriate total liveborn populations. The proportions with combinations of such measurements in 104 cases of spastic cerebral palsy from a population register of cerebral palsy are compared with those in a total liveborn population. Categories of 'abnormal' measurements associated with increased risk contained 44.4% of cases in excess of the proportion observed in the total population. More than half these excess cases were short for their gestation (suggesting size deficits originating before the 3rd trimester) and tended to have more severe forms of cerebral palsy. A further excess of 7.4% of cases had a head circumference above their 90th percentile: these generally developed mild cerebral palsy.

Birth Weight↗
PubMed2004

[Pharmacology and upper limb poststroke spasticity: a review. International Society of Prosthetics and Orthotics].

OBJECTIVES: The present study, conducted for the consensus conference "Orthotic management of stroke patients", organized by the International Society of Prosthetics and Orthotics, on September 2003, reviews the pharmacological, general, or local treatments available for post-stroke upper-limb spasticity. METHOD: A search of the international literature in the Medline and the Reedoc data banks for papers related to post-stroke upper-limb spasticity. Each paper was given a rating of A, B, or C (in term of quality) according to the instructions of the organization committee. RESULTS: General pharmacological treatments such as use of baclofen, tizanidine and dantrolene, regional treatments such as intrathecal baclofen, and local treatments with use of chemical neurolysis and alcohol or phenol are recommended for conditions described in papers with a grade of B. Neuromuscular blockade with botulinum toxin is recommended for conditions described in papers with a grade of A. DISCUSSION/CONCLUSION: Despite a satisfactory grade of recommendation, general pharmacological treatments are limited by adverse events and lack of evidence of functional benefit. Intrathecal baclofen should be discussed for upper-limb spasticity, but further studies are needed before its use can be recommended. The place of chemical neurolysis with use of alcohol or phenol should be evaluated with surgical neurotomy and botulinum toxin therapy. The use of botulinum toxin is the only treatment supported by scientific results, but many questions remain about the site of injection, how to improve efficacy and influence on neurological recovery.

Arm↗
PubMed2006

[Management of increase in spasticity in patients with intrathecal baclofen pumps].

INTRODUCTION: The incidence of complications after baclofen pump implantation is relatively high. Diagnosis of these complications can be difficult. A diagnostic tree would be a useful tool in cases of suspected malfunctioning of the intrathecal bacolfen infusion system and would standardise the diagnostic procedure. METHOD: From results in the literature and the experience of our department, we designed a diagnostic tree to aid in finding the cause of a recrudescence of spasticity in patients with implanted baclofen pumps. RESULTS: The potential causes of recrudescence of spasticity are described and a diagnostic pathway is proposed. DISCUSSION: The aim of a standardised hierarchical method of diagnosis of the cause of increased spasticity in patients with intrathecal baclofen pumps is to gain time in the diagnosis and treatment. Such diagnosis should improve patient care by permitting rapid restoration of an adequate level of baclofen infusion as well as decreasing the length of hospital stay and, as a consequence, the cost relating to malfunctioning pumps.

Baclofen↗
PubMed2004

Needle acupuncture in chronic poststroke leg spasticity.

OBJECTIVE: To determine whether needle acupuncture may be useful in the reduction of leg spasticity in a chronic state. DESIGN: Single-blind, randomized, placebo-controlled trial. SETTING: Neurologic outpatient department of a medical school in Germany. PARTICIPANTS: Twenty-five patients (14 women) suffering from chronic poststroke leg spasticity with pes equinovarus deformity (Modified Ashworth Scale [MAS] score, >/=1), aged 38 to 77 years (mean +/- standard deviation, 58.5+/-10.4 y), were enrolled in the study. The mean time from stroke to inclusion in the study was approximately 5 years (mean, 65.4+/-48.3 mo; range, 7-180 mo). INTERVENTIONS: Participants were randomly assigned to placebo treatment (n=12) by using a specially designed placebo needling procedure, or verum treatment (n=13). MAIN OUTCOME MEASURES: MAS score of the affected ankle, pain (visual analog scale), and walking speed. RESULTS: There was no demonstrated beneficial clinical effects from verum acupuncture. After 4 weeks of treatment, mean MAS score was 3.3+/-0.9 in the placebo group versus 3.3+/-1.1 in the verum group. The neurophysiologic measure of H-reflex indicated a significant increase of spinal motoneuron excitability after verum acupuncture (H-response/M-response ratio: placebo,.39+/-.19; verum,.68+/-.41; P<.05). CONCLUSIONS: This effect might be explained by afferent input of A delta and C fibers to the spinal motoneuron. The results from our study indicate that needle acupuncture may not be helpful to patients with chronic poststroke spasticity. However, there was neurophysiologic evidence for specific acupuncture effects on a spinal (segmental) level involving nociceptive reflex mechanisms.

Acupuncture Therapy↗
PubMed2005

The drawing test: assessment of coordination abilities and correlation with clinical measurement of spasticity.

OBJECTIVE: To assess the correlation between kinematic measures of movement (Drawing Test) and a clinical measure of spasticity (Ashworth Scale). DESIGN: Correlation study of Drawing Test and the Ashworth Scale scores. SETTING: Inpatient rehabilitation center. PARTICIPANTS: Forty-five poststroke hemiplegic subjects with various levels of spasticity (up to Ashworth Scale score of 3) and 8 able-bodied subjects with no sensorimotor deficits in their upper extremities. INTERVENTIONS: Subjects made self-paced, radial point-to-point movements between the left, and the right corners of a square (200 x 200 mm) on the surface of a drawing tablet. Hand coordinates were recorded from the mouse, which was attached to the hand. MAIN OUTCOME MEASURES: Correlation between (1) Drawing Test scores (time to perform the movement, radial [ y ] and tangential [ x ] distances between the end point of the movement and the target endpoint, standard error of the mean calculated as distances between the recorded path and its radial linear fit), and (2) Ashworth Scale scores. RESULTS: Drawing Test scores correlated highly with Ashworth Scale scores in 49 of 53 subjects, based on the multiple linear regression analysis. CONCLUSIONS: The Drawing Test, a quantitative metric of movement ability, correlated highly to the Ashworth Scale, a clinical measure of spasticity.

Adult↗
PubMed2004

The effect of hinged ankle-foot orthoses on sit-to-stand transfer in children with spastic cerebral palsy.

OBJECTIVE: To investigate the effectiveness of the hinged ankle-foot orthosis (AFO) on sit-to-stand (STS) transfers in children with spastic cerebral palsy. DESIGN: Before-after trial. SETTING: University-affiliated hospital. PARTICIPANTS: Nineteen spastic diplegic children (age range, 2-6 y). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The transitional movement of STS was tested in random order with children while wearing the barefoot and hinged AFOs. The temporal, kinematic, and kinetic data during the task were collected by using a motion analyzer (with 6 infrared cameras). Statistical comparison between barefoot and hinged AFO was done with the Wilcoxon signed-rank test. RESULTS: Total duration of STS transfer was significantly shortened with the hinged AFO (P <.05). The initial knee flexion, the initial angle, and the final angle of ankle dorsiflexion were increased with the AFO, compared with when barefoot (P <.05). However, the increased pelvic tilt and hip flexion while barefoot was not reduced with the AFO. The maximal moment and power of hip and knee joints were significantly increased with the AFO (P <.05), whereas the maximal moment and power of the ankle joint were not significantly changed when wearing the AFO. CONCLUSIONS: Although proximal compensatory strategy of increased pelvic tilt and hip flexion did not change with the hinged AFO, some improvements of temporal, kinematic, and kinetic parameters were identified during the task. These findings suggest that a hinged AFO is beneficial for STS transfer activity for children with spastic diplegia.

Ankle Joint↗
PubMed2005

Comparison of clinical and neurophysiologic responses to intrathecal baclofen bolus administration in moderate-to-severe spasticity after acquired brain injury.

OBJECTIVES: To compare clinical and neurophysiologic responses to intrathecal baclofen (ITB) bolus injection in subjects with spasticity after acquired brain injury. DESIGN: Prospective case series. SETTING: Tertiary care rehabilitation center. PARTICIPANTS: Thirty consecutive ITB pump candidates with dysfunctional spasticity caused by traumatic brain injury, hypoxic encephalopathy, or stroke. INTERVENTION: A single 50-microg ITB bolus. MAIN OUTCOME MEASURES: Lower-extremity Ashworth Scale score at 2, 4, and 6 hours after ITB bolus; soleus Hoffmann reflex (H-reflex)/M-wave amplitude (H/M) ratio and abductor hallucis F-wave persistence and F/M ratio at 5 hours. Nonparametric repeated-measures analysis of variance and paired t test were used for statistical analyses. RESULTS: The Ashworth score on the more involved side significantly decreased from 2.4+/-0.7 at baseline to 1.5+/-0.6 and 1.4+/-0.6 at 4- and 6-hour evaluations, respectively (P<.001). H/M ratio significantly decreased bilaterally (more involved side, 62%+/-28% to 14%+/-19%; less involved side, 59%+/-26% to 11%+/-20%; P<.001). F-wave persistence significantly decreased on the more involved side (86%+/-17% to 75%+/-13%, P<.05) with no change in F/M ratio. There was no significant correlation among these outcome measures before or after the ITB bolus injection. CONCLUSIONS: H/M ratio is more sensitive than the Ashworth score or F-wave persistence in detecting a physiologic response to ITB bolus. H-reflex is useful for verification of ITB bolus administration, as an adjunct to clinical evaluation, particularly among patients with moderate spasticity at rest or with small changes in Ashworth score. However, potential application of the marked sensitivity of the H-reflex to other clinically challenging situations, such as early detection of possible ITB system malfunction, awaits further investigation.

Adolescent↗
PubMed2006

Influence of posture and muscle length on stretch reflex activity in poststroke patients with spasticity.

OBJECTIVE: To investigate the influence of different positions on stretch reflex activity of knee flexors and extensors measured by electromyography in poststroke patients with spasticity and its expression in the Ashworth Scale. DESIGN: Crossover trial with randomized order of positioning. SETTING: Outpatient rehabilitation center in the Netherlands. PARTICIPANTS: Poststroke patients (N = 19) with lower-limb spasticity. INTERVENTION: Changing position: sitting versus supine. MAIN OUTCOME MEASURES: Root mean square (RMS) values of muscle activity and goniometric parameters, obtained during the pendulum test and passive knee flexion and extension, and Ashworth scores. RESULTS: RMS values of bursts of rectus femoris activity were significantly higher in the supine compared with the sitting position (P = .006). The first burst of vastus lateralis activity during the pendulum test (P = .049) and semitendinous activity during passive stretch (P = .017) were both significantly higher in the supine versus the sitting position. For both the pendulum test and passive movement test, the duration and amplitude of the cyclic movement of the lower leg changed significantly as well. In the supine position, we found significantly higher Ashworth scores for the extensors (P = .001) and lower scores for the flexors (P = .002). CONCLUSIONS: The outcome of clinical and neurophysiologic assessment of spasticity is influenced considerably by subject positioning.

Cross-Over Studies↗
PubMed2005

Reflex contribution of spindle group Ia and II afferent input to leg muscle spasticity as revealed by tendon vibration in hemiparesis.

OBJECTIVE: Foot dorsiflexion evokes a short- (SLR) and a medium-latency EMG response (MLR) in the soleus of standing subjects. SLR is mediated by spindle group Ia, while group II fibres contribute to MLR through an oligosynaptic circuit. We studied the effects of Achilles' tendon vibration on both responses in spastic patients to disclose any abnormal excitability of these pathways. METHODS: SLR and MLR were evoked in 11 hemiparetics and 11 normals. The vibration-induced changes in both responses were correlated to the Ashworth score of the affected leg. RESULTS: There were no differences between normals and patients in the size of control SLR or MLR. Vibration decreased SLR to 70% in normal subjects, but increased it to 110% in patients, in both affected and unaffected leg. Vibration did not affect MLR in normals, but increased it to 165% on the affected and 120% on the unaffected side of patients. Ashworth score was solely correlated with the degree of vibration-induced increase of MLR. CONCLUSIONS: While the lack of inhibitory effect of vibration on SLR confirms a reduced inhibitibility of the monosynaptic reflex, the increased MLR indicates a disinhibition of group II pathway in patients, connected to the loss of descending control on group II interneurones. Spastic hypertonia depends on release of group II rather than group Ia reflex pathways. SIGNIFICANCE: These findings give a neurophysiological support for the pharmacological treatment of spastic hypertonia and suggest a method for the assessment of its effects.

Adult↗
PubMed2004

Validation of portable muscle tone measurement device for quantifying velocity-dependent properties in elbow spasticity.

The objective of this study is to develop a portable device for quantifying the velocity-dependent properties of spastic elbow muscles. Based on a motor-driven system, validation tests of the portable system such as accuracy and response of sensors were first examined. Furthermore, simulated modules (inertia, damper and spring) as well as elbow joints (15 control and 15 hemiplegic subjects) were manually stretched under four different frequencies (1/3, 1/2, 1 and 3/2 Hz) through 60 degrees range of motion. Joint resistance and displacement during sinusoidal stretch were collected for further analysis. Two quantitative parameters (i.e., viscous components under each frequency and averaged viscosity across four frequencies) were derived to estimate the velocity-dependent properties of elbow joint. Tests of simulated modules confirm the manual stretch protocol and data analysis are valid in estimating the velocity-dependent component during a sinusoidal stretch. Compared to normal control, viscous component in each stretch frequency and averaged viscosity were significantly higher in subjects with spasticity (P < 0.001). The viscous component and averaged viscosity were found highly correlated with the modified Ashworth scale. These findings suggest that measurements of viscous component and averaged viscosity during manual sinusoidal stretching using the portable device could be clinically useful in evaluating spasticity.

Elasticity↗
PubMed2006

A neuromusculoskeletal model to simulate the constant angular velocity elbow extension test of spasticity.

We developed a neuromusculoskeletal model to simulate the stretch reflex torque induced during a constant angular velocity elbow extension by tuning a set of physiologically-based parameters. Our model extended past modeling efforts in the investigation of elbow spasticity by incorporating explicit musculotendon, muscle spindle, and motoneuron pool models in each prime elbow flexor. We analyzed the effects of changes in motoneuron pool and muscle spindle properties as well as muscle mechanical properties on the biomechanical behavior of the elbow joint observed during a constant angular velocity elbow extension. Results indicated that both motoneuron pool thresholds and gains could be substantially different among muscles. In addition, sensitivity analysis revealed that spindle static gain and motoneuron pool threshold were the most sensitive parameters that could affect the stretch reflex responses of the elbow flexors during a constant angular velocity elbow extension, followed by motoneuron pool gain, and spindle dynamic gain. It is hoped that the model will contribute to the understanding of the underlying mechanisms of spasticity after validation by more elaborate experiments, and will facilitate the future development of more specific treatment of spasticity.

Adaptation, Physiological↗
PubMed2004

Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.

Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.

Adolescent↗