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PubMed1997

Evaluation of a training program for persons with SCI paraplegia using the Parastep 1 ambulation system: part 2. Effects on physiological responses to peak arm ergometry.

OBJECTIVE: To examine the task-nonspecific effects of functional neuromuscular stimulation (FNS)-assisted ambulation training on the physiological responses of persons with paraplegia to upper extremity exercise challenge. DESIGN: Before-after trial. SETTING: Human spinal cord injury (SCI) applied research laboratory. PARTICIPANTS: Twelve men and three women with motor- and sensory-complete thoracic-level SCI (T4-T11), mean age 28.2 +/- 6.8yrs (range, 21.1 to 45.2yrs), mean injury duration 3.7 +/- 3.0yrs (range, 7 to 8.8yrs). INTERVENTION: Thirty-two sessions of FNS ambulation training using a commercial six-channel system (Parastep 1). This system is composed of a microprocessor-controlled electrical stimulation unit and a walking frame outfitted with finger switches that allow the user to independently control the system and stimulation parameters. OUTCOME MEASURES: Peak and subpeak physiological responses to arm ergometry testing and upper extremity strength measures, obtained before and after the FNS ambulation training. RESULTS: Statistically significant increases in peak values for time to fatigue, peak power output, and peak VO2 (all p < .001). Heart rate was significantly lower throughout subpeak levels of arm ergometry after the ambulation training (p < .05). Values of upper extremity strength were not significantly altered after training. CONCLUSIONS: FNS ambulation by persons with SCI paraplegia results in task-nonspecific training adaptations. Central cardiovascular adaptations were indicated as the primary source of these beneficial alterations in exercise responses.

Adult↗
PubMed1997

Evaluation of a training program for persons with SCI paraplegia using the Parastep 1 ambulation system: part 4. Effect on physical self-concept and depression.

OBJECTIVE: To determine whether persons with spinal cord injury (SCI) paraplegia who participated in an electrical stimulation walking program experienced changes in measures of physical self-concept and depression. DESIGN: Before-after trial. SETTING: Human SCI applied research laboratory. PARTICIPANTS: Volunteer sample of 12 men and 3 women with SCI paraplegia, mean age 28.75 +/- 6.6yrs and mean duration of injury 3.8 +/- 3.2yrs. INTERVENTION: Thirty-two FNS ambulation training sessions using a commercially available system (Parastep 1). The hybrid system consists of a microprocessor-controlled stimulator and a modified walking frame with finger-operated switches that permit the user to control the stimulation parameters and activate the stepping. OUTCOME MEASURES: The Tennessee Self-Concept Scale (TSCS) and the Beck Depression Inventory (BDI) were administered before and after training. Only the Physical Self subscale of the TSCS was analyzed. After training, individual interviews were performed to assess participants' subjective reactions to the training program. RESULTS: A repeated measures analysis of variance indicated that desired directional and statistically significant changes occurred on the Physical Self subscale of the TSCS (F(1,14) = 8.54, p < .011) and on the BDI (F(1,14) = 5.42, p < .035). CONCLUSIONS: Subsequent to the ambulation training program there were statistically significant increases in physical self-concept scores and decreases in depression scores.

Adult↗
PubMed1998

Electrophysiologic evaluation of denervated muscles in incomplete paraplegia using macro electromyography.

OBJECTIVE: To evaluate denervated muscles in persons with incomplete paraplegia due to thoracolumbar spinal injury (TLSI) using macro electromyography in determining indications for functional electrical stimulation (FES). DESIGN: A randomized clinical trial and a criterion standard. SETTING: A department of orthopedic surgery in a university hospital. PATIENTS AND OTHER PARTICIPANTS: Eighteen patients with incomplete paraplegia, including 11 with TSLI, and 50 healthy adults. INTERVENTION: Area and amplitude of macro motor unit potential (macro MUP) were measured at the tibialis anterior, the vastus lateralis, and the vastus medialis. The normal limits of macro MUP parameters were defined based on values from healthy subjects. Abnormal denervated muscles were detected by macro EMG and conventional EMG in paralytic patients. The correlation between macro MUP parameter values and muscle forces of the tibialis anterior and quadriceps femoris induced by electrical stimulation was analyzed. MAIN OUTCOME MEASURES: The number of abnormal muscles, parameter values, and muscle force induced by electrical stimulation. RESULTS: Abnormal muscles were found only in the TLSI patients and 13 abnormal muscles were detected by macro EMG only. The abnormal muscles defined by macro EMG showed insufficient contraction induced by electrical stimulation. The increase of parameter value negatively correlated with the muscle force (tibialis anterior area r=-.797, amplitude r=-.866; quadriceps area r=-.866, amplitude r=-.893; p < .001). CONCLUSIONS: These results suggest that macro EMG is useful in detecting denervated muscles, in determining indications for FES, and in predicting FES effects before implantation of electrodes.

Adolescent↗
PubMed1998

Immobilization hypercalcemia in incomplete paraplegia: successful treatment with pamidronate.

Immobilization hypercalcemia (IH) occurs in adolescent patients with high-level complete tetraplegia, but it has not been reported in patients with incomplete paraplegia. We describe two adolescent patients with low-level incomplete paraplegia who developed IH during comprehensive rehabilitation. Conventional therapies with hydration, diuresis, and calcitonin were not effective. Finally, a single-dose infusion of pamidronate, an amino-bisphosphonate, completely resolved the hypercalcemia. Although it has a pharmacologic profile similar to etidronate, pamidronate is more potent, being effective in a single dose, has fewer adverse effects, and has a longer action than etidronate. These features make pamidronate more suitable for the treatment of severe IH in rehabilitation settings. It is reasonable to consider immobilization as the cause of hypercalcemia in low-level incomplete paraplegic patients who have other contributing factors.

Adolescent↗
PubMed1997

Autosomal dominant spastic paraplegia linked to chromosome 2p: clinical and genetic studies of a large Japanese pedigree.

Autosomal dominant spastic paraplegia (ADSP) is a genetically heterogenous disorder. To date, 3 loci of ADSP have been identified on chromosome 2p, 14q, and 15q, but specific gene mutations remain unknown. To determine the genetic background of ADSP in the Japanese, we studied a large 3-generation pedigree, clinically and genetically. Of the 36 individuals clinically examined, 15 were affected. The main feature in the affected individuals was a slowly progressive spastic paraplegia, associated with upper limb hyperreflexia (58%), reduction of vibration sense (27%) and bladder disturbance (13%). Age at onset ranged from 13 to 50 years with a mean of 30.3 +/- 14.2 (SD). There were 6 parent-child pairs with anticipation and at least 3 others with 'anti-anticipation'. Linkage with 14q and 15q ADSP loci was excluded, and a highly significant lod score was obtained only in the case of the 2p locus (Zmax = 3.53 for D2S400/D2S352, at theta = 0.00). Our study is the first to confirm the existence of 2p-linked ADSP in the Japanese. There is a significant variety in age at onset and disease severity in these 2p-linked families, but the implication for underlying ADSP mutation is not clear.

Adolescent↗
PubMed2004

[Progressive spastic paraplegia as a presentation of oculodentodigital syndrome].

Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.

Abnormalities, Multiple↗
PubMed2006

[Coeliac disease an spastic paraplegia].

INTRODUCTION: Celiac disease (CD) is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. Neurological manifestations are rare and severe and must be sought systematically. CLINICAL CASES: Two non related patients each from a consanguineous marriage developed progressive spastic paraplegia 2 and 8 years respectively after onset of CD. The radiological and biological findings were normal except for the presence of abnormalities related to CD. CONCLUSION: The relationship between spastic paraplegia and CD is not well established. Autoimmune, metabolic and genetic mechanisms could be considered but the probability of a fortuitous association should not be ruled out.

Adolescent↗
PubMed1998

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.

A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.

Adolescent↗
PubMed2002

A novel mutation in the spastin gene in a family with spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a degenerative neuromuscular disease characterized by progressive lower extremity weakness, spasticity and hyperreflexia. Inheritance of HSP is commonly autosomal dominant, spastin was identified as the defective gene in chromosome 2p-linked autosomal dominant hereditary spastic paraplegia (AD-HSP). In a large American family with AD-HSP, we have identified a novel spastin mutation at a splice-acceptor site in intron 6 (1130-1 g--> a) and detected a corresponding aberrant transcript generated from a cryptic splice site. This is predicted to cause a frameshift and premature truncation of the abnormal spastin protein. Our data are the first to confirm that a mutation in an acceptor site in the spastin gene results in activation of a cryptic acceptor site and a translational frameshift. The clinical phenotype of this pedigree is also discussed.

Adenosine Triphosphatases↗
PubMed2002

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.

We describe the structure, genomic organization, and some transcription features of a human brain-specific gene previously localized to the genomic region involved in temporal lobe epilepsy and spastic paraplegia on chromosome 10q24. The gene, which consists of six exons disseminated over 16 kb of genomic DNA, is highly homologous to the porcine tmp83.5 gene and encodes a putative transmembrane protein of 141 amino acids. Unlike its porcine homolog, from which two mRNAs with different 5'-sequences are transcribed, the human gene apparently encodes three mRNA species with 3'-untranslated regions of different sizes. Mutation analysis of its coding sequence in families affected with temporal lobe epilepsy or spastic paraplegia linked to 10q24 do not support the involvement of this gene in either diseases.

Amino Acid Sequence↗
PubMed1999

A clinical study of a large inbred kindred with pure familial spastic paraplegia.

BACKGROUND AND OBJECTIVES: Spastic paraplegia, an uncommon neurodegenerative disorder with phenotypic and genotypic heterogeneity, is mainly characterized by progressive weakness and spasticity of the lower limbs. We here present a large inbred family with pure familial spastic paraplegia outlining the clinical picture, the age at onset and the possible mode of inheritance. METHODS: This family was ascertained through two probands after which we structured an extended 10 generation pedigree. We examined 43 available family members to identify affected individuals based on fixed criteria. The clinical presentation and phenotypic specifics of this disease were studied in the affected members. We analyzed the possible mode of inheritance and the age at onset in this family. RESULTS: This 10 generation family reported about 50 affected individuals distributed over 5 consecutive generations. We identified 13 affected individuals out of the examined 43 and five individuals were classified as probably affected. We noticed the clinical specifics of this disorder in this family and identified some unique features not described in previous reports. DISCUSSION AND CONCLUSION: The mode of inheritance is either autosomal recessive or autosomal dominant with incomplete penetrance or variable expression of the age at onset. The age at onset seems to decrease with successive generations, either due to a true anticipatory phenomenon or to increased awareness. The unique features of this disorder in this family are discussed.

Adolescent↗
PubMed2003

Delayed paraplegia after endovascular repair of abdominal aortic aneurysm.

Paraplegia is rare after open repair of infrarenal abdominal aortic aneurysm, and only two cases have been reported after endovascular repair, both due to atheroembolism. Incidence of renal failure after endovascular repair of abdominal aortic aneurysm (EVAR) in patients with normal preoperative renal function is about 8.7%, but is much higher in those with preexisting renal impairment, possibly because of administration of nephrotoxic contrast media during EVAR. We report a case in which contrast medium-induced acute renal failure is believed to have led to delayed paraplegia after EVAR.

Acute Kidney Injury↗
PubMed1992

[Paraplegia after spinal anesthesia].

A case of paraplegia occurring after a spinal anaesthetic is reported. The 79-year-old man was admitted for a fractured neck of femur. Twenty years previously, he had had pharyngeal surgery and a tracheostomy. He had also undergone a prostatectomy for prostate cancer, and had been on oestrogen therapy for two years. He complained of dyspnoea at rest and his chest film showed diffuse pulmonary opacities. In order to avoid possible intubation and respiratory complications, spinal anaesthesia was performed without any problems in the L4 space. After the surgery, the patient recovered all his motor and sensory functions in the lower limbs. On the second postoperative day, he suffered from a motor paralysis of the right leg, which spread to the left leg on the fourth day. NMR imaging showed several vertebral metastases, together with anterior and lateral epidural invasion responsible for cord compression. Treatment with tetracosactide was begun, but the patient died six weeks later in his home, not having recovered any neurological function at all in his lower limbs. In fact, it was only after the procedure that the anaesthetist was informed that, at the time the prostate cancer had been diagnosed, vertebral body metastases, of which the patient had not been informed, were already present. The part played by the spinal anaesthetic in the occurrence of the paraplegia is not clear. It is reminded that such a technique should be used with extreme care in patients having a neoplasm with a very often high incidence of vertebral metastases.

Aged↗
PubMed2001

Paraplegia: complication of percutaneous central venous line malposition.

Percutaneously inserted central venous lines are usually a safe and effective means of securing prolonged central venous access but can have serious complications. One patient who experienced clinically important morbidity related to inadvertent malpositioning of a central venous catheter is described. It was inserted via the left saphenous vein into the lumbar venous plexus and resulted in milky cerebrospinal fluid, urine retention, and paraplegia. Reviewing the literature, only 11 patients with the same malposition were reported, three of them with percutaneously inserted central venous lines. In these three patients and our patient the left saphenous vein was used. Neurologic sequelae of paraplegia and urine retention were recorded in 25% (3/12) of patients. The mortality rate approached 42% (5/12) but only two patients were related to catheter misplacement. Although the complication rate is extremely low and difficult to recognize, catheter malposition into the ascending lumbar vein can lead to lethal complications.

Catheterization, Central Venous↗
PubMed1997

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

A project for studying the prevalence of hereditary ataxias (HA) and familial spastic paraplegias (FSP) in Portugal was set up in 1993. The ascertainment of patients in previous prevalence studies relied mainly on the information of hospital admissions and out-patient contacts with the neurology and other related departments at central hospitals covering the whole region surveyed. Many patients might be overlooked if large populations were studied using this method, since registers at central hospitals are very incomplete and for most part not yet computerized. On the other hand HA and FSP are rare diseases appearing in family clusters, and it would be unreasonable to undertake a sample survey based upon a suitable frame of the Portuguese population. Therefore we decided to carry out a two-phase prevalence survey at district level, involving the collaboration of all physicians working in the district health institutions and the population, in the screening of eligible subjects in phase 1. All subjects screened as positive were examined by a neurologist in phase 2. This method provided a direct estimate of false positives and false negatives were all patients also examined in phase 2, who came to our knowledge using other sources of information. The prevalence of hereditary ataxias and spastic paraplegias in the pilot district was 6.4 per 100,000 inhabitants. The sensitivity of the screening procedure was 81.2% and the predictive value of a positive screening was 25%. Considering the geographically circumscribed district nature of the populations to be studied, the comprehensive sources of case identification used and the high adherence of the health professionals involved, we believe that this method can be widely used, particularly in countries with similar health care services.

Adult↗
PubMed2000

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity.

Hereditary motor and sensory neuropathy type V is a very rare disease in which hereditary spastic paraplegia is associated with peripheral motor and sensory neuropathy. The symptomatic onset of the disorder is usually in the second decade of life or later and the course is progressive over many years. Hereditary motor and sensory neuropathy type V is inherited as an autosomal dominant trait usually showing incomplete penetrance. So far, no molecular data are available in the literature about this disease. In our study we present clinical and molecular data from a large Italian family displaying hereditary motor and sensory neuropathy type V. Taking into account the clinical features in this family, we have performed a linkage analysis for markers strictly associated with all the known loci for autosomal dominant and autosomal recessive forms of hereditary spastic paraplegia and hereditary motor and sensory neuropathy type II, and have found no linkage to these loci. Our study suggests that hereditary motor and sensory neuropathy type V is not only a distinct clinical entity but also a distinct genetic entity.

Adult↗
PubMed2001

The impact of ischaemic preconditioning on spinal cord blood flow and paraplegia.

PURPOSE: We investigated the effect of ischaemic preconditioning (IP) on ischaemic spinal cord injury in a rabbit model. METHODS: Fourteen rabbits were divided into IP and control groups of seven rabbits each. We repeated 3-min clamping of the infrarenal abdominal aorta and 3-min reperfusion twice (preconditioning), followed by 15 min clamping in the IP group. In the control group, the aorta was clamped for 15 min without preconditioning. Lumbar cord blood flow and systemic blood pressure were measured until 3 h of reperfusion. Another 14 rabbits underwent the same procedures with or without IP and neurologic status was assessed on the second postoperative day. RESULTS: The percent change in lumbar cord blood flow after reperfusion was significantly greater (P=0.013) in the IP group despite lower mean blood pressure. There was no significant difference in overall neurologic status (P=0.461) but the incidence of spastic paraplegia in the IP group was lower (14%, 1/7) than that of control group (43%, 3/7). CONCLUSION: IP increased postischaemic lumbar cord blood flow and contributed to lower incidence of spastic paraplegia.

Animals↗
PubMed2000

Intrathecal baclofen normalizes motor strategy for squatting in familial spastic paraplegia: a case study.

We aimed to assess whether intrathecal baclofen could alter the motor strategy for squatting of a patient with pure familial spastic paraplegia. Before baclofen injection and two, four and six hours after it, the patient was evaluated as follows: self-report of walking stiffness and movement initiation; muscle tone with the Ashworth scale; and kinematic and electromyographic analysis of the squatting movement using the opto-electronic ELITE system. The patient's subjective improvement and decrease in muscle tone were dramatic after baclofen injection. Kinematic analysis of squatting showed gradual improvement. Before the injection, the movement was performed with loss of trunk verticality, backward shift of the hip, multiphasic ascending phase of the knee angular velocity and dynamic ankle stiffening. After baclofen injection, the movement was made with vertical translation of body segments and monophasic ascending phase of the knee angular velocity. The effect was maximal six hours after the injection. Electromyographic activities showed a non-specific co-contraction pattern before the injection, and a reciprocal pattern two hours after it. Moreover, a physiological anticipatory deactivation of the hamstring muscles appeared two hours after the injection. In this study of a single patient with familial spastic paraplegia, intrathecal baclofen has facilitated the emergence of normal, supraspinally determined movement patterns.

Adult↗