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PubMed2000

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. To date, three loci for autosomal recessive HSP have been mapped on chromosomes 8p, 16q, and 15q. After exclusion of linkage at these loci, we performed a genomewide search in a consanguineous Italian family with autosomal recessive HSP complicated by mild mental retardation and distal motor neuropathy. Using homozygosity mapping, we obtained positive LOD scores for markers on chromosome region 3q27-q28, with a maximum multipoint LOD score of 3.9 for marker D3S1601. Haplotype analysis allowed us to identify a homozygous region (4.5 cM), flanked by markers D3S1580 and D3S3669, that cosegregates with the disease. These data strongly support the presence, on chromosome 3q27-28, of a new locus for complicated recessive spastic paraplegia, which we have named "SPG14."

Adult↗
PubMed2003

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Mast syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia that is present at high frequency among the Old Order Amish. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities, as seen on magnetic resonance imaging. Using an extensive Amish pedigree, we have mapped the Mast syndrome locus (SPG21) to a small interval of chromosome 15q22.31 that encompasses just three genes. Sequence analysis of the three transcripts revealed that all 14 affected cases were homozygous for a single base-pair insertion (601insA) in the acid-cluster protein of 33 kDa (ACP33) gene. This frameshift results in the premature termination (fs201-212X213) of the encoded product, which is designated "maspardin" (Mast syndrome, spastic paraplegia, autosomal recessive with dementia), and has been shown elsewhere to localize to intracellular endosomal/trans-Golgi transportation vesicles and may function in protein transport and sorting.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on chromosome 8p24.13. The three families previously linked to the SPG8 locus present with relatively severe, pure spastic paraplegia. We have identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus. One mutation, V626F, segregated in three large North American families with European ancestry and in one British family. An L619F mutation was found in a Brazilian family. The third mutation, N471D, was identified in a smaller family of European origin and lies in a spectrin domain. None of these mutations were identified in 500 control individuals. Both the L619 and V626 residues are strictly conserved across species and likely have a notable effect on the structure of the protein product strumpellin. Rescue studies with human mRNA injected in zebrafish treated with morpholino oligonucleotides to knock down the endogenous protein showed that mutations at these two residues impaired the normal function of the KIAA0196 gene. However, the function of the 1,159-aa strumpellin protein is relatively unknown. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP.

Amino Acid Sequence↗
PubMed1999

Age, outcome, and rehabilitation costs after paraplegia caused by traumatic injury of the thoracic spinal cord, conus medullaris, and cauda equina.

The object of this study was to investigate the relationships of age on neurologic and functional outcome, hospitalization length of stay (LOS), and hospital charges after spinal cord injury (SCI). At 20 medical centers, 2,169 consecutive adult patients with paraplegia SCI were assessed in acute care and inpatient rehabilitation. Outcome and treatment measures included the ASIA motor index score, functional independence measure, discharge to community ratio, LOS, and hospital charges. Age differences were examined by separating the sample into 11 age categories and conducting one-way analyses of variance on treatment, medical expense, and outcome measures that included the Functional Independence Measure (FIM) and ASIA motor index scores. Cramer's statistic was used to derive a chi-square value that indicated whether variables differed significantly in terms of age. Post-hoc Tukey tests were also performed. Age-related differences were found with multiple demographic variables. Significant differences between age categories were found with regard to the following treatment measures: ASIA motor index scores at acute-care admission and at discharge, rehabilitation LOS, inpatient rehabilitation hospitalization charges, total LOS, total hospitalization charges, FIM scores at inpatient rehabilitation admission and discharge, FIM change, and FIM efficiency. In conclusion, in patients with paraplegia, age appears to adversely affect functional outcome, rehabilitation LOS, and hospital costs. However, neurologic recovery as defined by the ASIA motor scores does not appear to be related to age.

Adolescent↗
PubMed2005

Measurement of peripheral muscle resistance in rats with chronic ischemia-induced paraplegia or morphine-induced rigidity using a semi-automated computer-controlled muscle resistance meter.

In experimental and clinical studies, an objective assessment of peripheral muscle resistance represents one of the key elements in determining the efficacy of therapeutic manipulations (e.g. pharmacological, surgical) aimed to ameliorate clinical signs of spasticity and/or rigidity. In the present study, we characterize a newly developed limb flexion resistance meter which permits a semi-automated, computer-controlled measurement of peripheral muscle resistance (PMR) in the lower extremities during a forced flexion of the ankle in the awake rat. Ischemic paraplegia was induced in Sprague-Dawley rats by transient aortic occlusion (10 min) in combination with systemic hypotension (40 mm Hg). After ischemia the presence of spasticity component was determined by the presence of an exaggerated EMG activity recorded from gastrocnemius muscle after nociceptive or proprioceptive afferent activation and by velocity-dependent increase in muscle resistance. Rigidity was induced by high dose (30 mg/kg, i.p.) of morphine. Animals with defined ischemic spasticity or morphine-induced rigidity were then placed into a plastic restrainer and a hind paw attached by a tape to a metal plate driven by a computer-controlled stepping motor equipped with a resistance transducer. The resistance of the ankle to rotation was measured under several testing paradigms: (i) variable degree of ankle flexion (40 degrees, 50 degrees, and 60 degrees), (ii) variable speed/rate of ankle flexion (2, 3, and 4 sec), (iii) the effect of inhalation anesthesia, (iv) the effect of intrathecal baclofen, (v) the effect of dorsal L2-L5 rhizotomy, or (vi) systemic naloxone treatment. In animals with ischemic paraplegia an increased EMG response after peripheral nociceptive or proprioceptive activation was measured. In control animals average muscle resistance was 78 mN and was significantly increased in animals with ischemic spasticity (981-7900 mN). In ischemic-spastic animals a significant increase in measured muscle resistance was seen after increased velocity (4 > 3 > 2 sec) and the angle (40 degrees > 50 degrees > 60 degrees) of the ankle rotation. In spastic animals, deep halothane anesthesia, intrathecal baclofen or dorsal rhizotomy decreased muscle resistance to 39-80% of pretreatment values. Systemic treatment with morphine induced muscle rigidity and corresponding increase in muscle resistance. Morphine-induced increase in muscle resistance was independent on the velocity of the ankle rotation and was reversed by naloxone. These data show that by using this system it is possible to objectively measure the degree of peripheral muscle resistance. The use of this system may represent a simple and effective experimental tool in screening new pharmacological compounds and/or surgical manipulations targeted to modulate spasticity and/or rigidity after a variety of neurological disorders such as spinal cord traumatic or ischemic injury, multiple sclerosis, cerebral palsy, or Parkinson's disease.

Anesthetics, Inhalation↗
PubMed1990

A quantitative study of sensory function in hereditary spastic paraplegia.

Somatic sensation was studied in 23 patients from 14 families with hereditary spastic paraplegia. Quantitative sensory testing revealed significantly raised thermal, heat pain, vibratory and tactile thresholds in patients as compared with normal controls. Cutaneous sensitivity was more severely impaired in the feet than in the hand. All patients had at least one elevated sensory threshold. Sensory nerve conduction studies were abnormal in 6 patients, 5 of whom were members of the same family. Somatosensory evoked potentials were reduced on average to half the size of those of controls. Although the clinical picture is dominated by a spastic paraparesis, subclinical sensory impairment is common in hereditary spastic paraplegia and may reflect involvement of peripheral nerves, afferent pathways in the spinal cord or both.

Adult↗
PubMed1991

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

A clinical, genetic and epidemiological study of hereditary ataxias and paraplegias was conducted within a defined area (Cantabria) in Northern Spain from 1974 to 1986. The series comprised 48 index cases and 65 affected relatives. On prevalence day, 103 patients were alive, giving a prevalence of 20.2 cases per 100,000. There were 24 patients (18 families) with Friedreich's ataxia (FA), 12 (6 families) with early onset cerebellar ataxia (EOCA) differing from FA, 6 (3 families) with dominantly transmitted late onset cerebellar ataxia (LOCA), 11 with 'idiopathic' LOCA, 49 (9 families) with 'pure' hereditary spastic paraplegia (HSP), and 1 patient with congenital cerebellar ataxia. The prevalence found here is comparable with the highest figures described in previous surveys. This may in part be due to the great number of secondary cases in our series. A high frequency of parental consanguinity occurred in FA patients, 'pseudodominant' inheritance being observed in 1 family. The clinical features were those of classical FA except for later onset and slower course in 1 family, and retained tendon reflexes in the lower limbs in 2 cases. Such data indicate the need for modification of the essential criteria for the disease. EOCA included 4 patients with normoreflexic ataxia and 1 patient with ataxia and luteinizing hormone-releasing hormone deficiency. In addition, there were 7 patients from 2 unrelated families with a homogeneous syndrome characterized by autosomal recessive inheritance, cerebellar ataxia, retinitis pigmentosa and sensory neuropathy. This syndrome is therefore a well defined nosological entity to be added to the list of autosomal recessive mendelian phenotypes. The clinical picture of patients with LOCA was either a 'pure' cerebellar or a 'cerebellar-plus' syndrome. Genetic subgroups of 'pure' HSP were autosomal dominant type I in 5 families and type II in 2, and autosomal recessive in 2 families.

Adult↗
PubMed1994

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia.

Five patients are described with a progressive sensory neuropathy in association with a spastic paraplegia and a mutilating lower limb acropathy. Disease onset was in childhood. Two pairs of siblings were both the offspring of normal consanguinous parents, suggesting autosomal recessive inheritance. The fifth case was sporadic; her parents were normal and non-consanguinous. Nerve biopsy in three patients showed an axonopathy with a loss of myelinated nerve fibres of all diameters and also of unmyelinated axons. In combination with the previous report by Cavanagh et al. (Brain 1979; 102: 79-94), the present patients establish the existence of an autosomal recessive form of hereditary sensory neuropathy with spastic paraplegia. There have been previous descriptions of a dominantly inherited form.

Adolescent↗
PubMed2004

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations have been described so far in association with both pure and complicated HSP phenotypes. Muscle biopsies from the most severely affected patients have shown histological evidence of an oxidative phosphorylation defect. We identified six ARHSP kindreds, in whom linkage to SPG7 could not be excluded, and 29 sporadic spastic paraplegia patients. The 17 exons and flanking regions of the SPG7 gene were screened for mutations using a combination of single-stranded conformation polymorphism (SSCP) analysis and sequencing. Three patients were found to carry compound heterozygous SPG7 mutations, comprising five novel and one previously described mutation. Muscle biopsies from two SPG7 mutation patients did not show any histological evidence of an oxidative phosphorylation defect. However, biochemical analysis revealed a reduction in citrate synthase-corrected complex I and complex II/III activities in muscle and complex I activity in mitochondrial-enriched fractions from cultured myoblasts, suggesting that either a primary or a secondary defect of respiratory chain function may play an important role in the pathogenesis of the disease.

ATPases Associated with Diverse Cellular Activitie↗
PubMed1987

Effects of wheelchair design on metabolic and heart rate responses during propulsion by persons with paraplegia.

The purpose of this study was to investigate the metabolic and heart rate (HR) responses of individuals with paraplegia to propulsion in wheelchairs of different design. Eight male and one female wheelchair-bound adults with paraplegia were studied. Each subject propelled a conventional wheelchair and a sports wheelchair on a level wooden surface at four velocities ranging from 1 to 3 m/sec. Steady-rate oxygen consumption (VO2) and immediate postexercise HR measurements were obtained. A linear regression analysis of VO2 (L/min) as a function of velocity (m/sec) revealed a slope and correlation coefficient of 0.614 and .93, respectively, for the conventional chair, and 0.510 and .96, respectively, for the sports chair. The intercepts of these relationships did not differ between wheelchair designs. The data analysis revealed no difference between chair designs in the relationship between velocity and work rate. Thus, the energy cost of propelling the sports chair at a specific velocity was 17% less than that of the conventional chair. The greater efficiency of the sports chair is attributed to differences in wheelchair design, rather than to the total mass of the device.

Adult↗
PubMed1993

Implications of elbow arthrodesis for individuals with paraplegia.

A 38-year-old woman who had a recent injury resulting in T-3 Frankel Class C paraplegia and a comminuted fracture of the right elbow is described in this case report. The elbow required an arthrodesis, but the position in which the elbow should be fused was not initially known. To illustrate to the rehabilitation team and the patient the advantages and disadvantages of each of two elbow positions under consideration for the arthrodesis, the author recruited an individual with paraplegia to demonstrate some activities of daily living with two elbow splints that stimulated the two positions of fusion being considered. The patient and the rehabilitation team concluded that the 30-degree flexion fusion offered more functional mobility than the 90-degree flexion fusion. At the completion of her initial rehabilitation, the patient was a full-time manual wheelchair user. She was independent in all self-care and transfers, including uneven transfers to heights of 22.9 cm (9 in) over and 45.7 (18 in) lower than the wheelchair seat. She drives a four-wheel-drive vehicle and is independent in stowing her wheelchair.

Activities of Daily Living↗
PubMed1995

Neuroanesthesia adjunct therapy (mannitol and hyperventilation) is as effective as cerebrospinal fluid drainage for prevention of paraplegia after descending thoracic aortic cross-clamping in the dog.

We compared cerebrospinal fluid (CSF) drainage (Group D; n = 8) to neuroanesthesia adjunct therapy (hyperventilation and mannitol administration; Group N; n = 8) for the prevention of paraplegia using a canine model of descending thoracic aortic cross-clamping (AXC; 2.5 mm distal to the left subclavian artery for 30 min). We expected no difference in neurologic outcome between groups. After surgical preparation and a 30-min stabilization period, dogs in Group D had CSF drained prior to application of the AXC. During the period of AXC, CSF was allowed to drain freely in an attempt to have cerebrospinal fluid pressure (CSFP) no greater than central venous pressure (CVP). Dogs in Group N were hyperventilated (PaCO2 28-32 mm Hg) and received 2 g/kg of mannitol prior to AXC and then 1 g.kg-1.hr-1 during clamping. Systemic hemodynamics, CSFP, and arterial blood gases were measured at 1) baseline, 2) 2 min after AXC, 3) 20 min after AXC, 4) 5 min after AXC release, and 5) 30 min after resuscitation. With release of the AXC, PaCO2 was not controlled in Group D; in Group N the minute ventilation was further increased to maintain PaCO2 constant. At precisely 24 h after AXC, the animals were assessed for incidence and severity of paraplegia, using the Tarlov score, by an observer unaware of the experimental protocol. The animals were then killed, and the entire spinal cord was removed for histologic assessment. Multiple sections of the lumbar spinal cord were processed and stained with hematoxylin and eosin, then examined by light microscopy for nonviable neurons in the anterior spinal cord.(ABSTRACT TRUNCATED AT 250 WORDS)

Anesthesia↗
PubMed2004

Functional recovery in chronic paraplegia after bone marrow stromal cells transplantation.

Previous reports showed the therapeutic effect of transplants of bone marrow stromal cells (BMSC) after incomplete traumatic spinal cord lesions. We studied the effect of this form of therapy in chronically paraplegic Wistar rats due to severe spinal cord injury (SCI). Rats were subjected to weight-drop impact causing paraplegia, and BMSC or phosphate buffered saline (PBS) was injected into spinal cord 3 months after injury. Functional outcome was measured using the Basso-Beattie-Bresnehan score until sacrifice of the animals, 4 weeks after transplantation. At this time, samples of spinal cord tissue were studied histologically. The results showed a clear and progressive functional recovery of the animals treated with BMSC transplantation, compared to controls. Grafted BMSC survived into spinal cord tissue, forming cell bridges within the traumatic centromedullary cavity. In this tissue, cells expressing neuronal and astroglial markers can be seen, together with a marked ependymal proliferation, showing nestin-positivity. These findings suggest the utility of BMSC transplantation in chronically established paraplegia.

Animals↗
PubMed1975

Microcirculation of traumatized spinal cord. A correlation of microangiography and blood flow patterns in transitory and permanent paraplegia.

A relationship of microangiography and blood flow patterns in the contused feline spinal cord is reported. In transitory traumatic paraplegia, an injury from which there is a return of function in several weeks, impaired vascular perfusion occurs in the white matter through 1 hour after contusion, then stabilizes and returns to normal by 24 hours. In permanent traumatic paraplegia, an injury from which no sensory or motor function returns, the vascular perfusion of the white matter continues to decrease after 1 hour and returns to normal by 24 hours at which time irreversible damage has occurred to the major sensory and motor tracts. Within the first 30 minutes post-trauma, intramedullary vasospasm is noted. In both the transitory and permanent lesions the gray matter becomes hemorrhagic and has no evidence of perfusion by fluorescent techniques by 1 hour after injury.

Animals↗
PubMed1994

Acute thoracic aortic occlusion resulting from complex aortic dissection and presenting as paraplegia.

Acute paraplegia from an aortic occlusion or dissection is a surgical emergency. Prompt recognition and treatment may mitigate irreversible spinal cord injury. Aortography is commonly used when an aortic lesion is suspected as the cause of acute paraplegia. Transesophageal echocardiography is becoming increasingly used for the evaluation of aorta, diagnosing aortic dissection promptly at the bedside, and was able to define the cause of the spinal cord ischemia.

Acute Disease↗
PubMed1999

Cardiorespiratory responses to arm cranking and electrical stimulation leg cycling in people with paraplegia.

PURPOSE: The purpose of this study was to assess the cardiorespiratory responses during arm exercise with and without concurrent electrical stimulation-induced leg cycling in people with paraplegia. METHODS: On separate days, 10 subjects with spinal cord injuries (T5-T12) performed either arm cranking (ACE), or simultaneous arm cranking + electrical stimulation-induced leg cycling (ACE+ES-LCE) graded exercise tests. RESULTS: During submaximal, steady-state exercise, ACE+ES-LCE elicited significantly higher VO2, (by 0.25-0.28 L x min(-1)) stroke volume (by 13 mL), and VE(BTPS) (by 9.4 L x min(-1)) compared with ACE alone. In contrast, there were no significant differences of submaximal HR, cardiac output, or power output between the exercise modes. At maximal exercise, ACE+ES-LCE elicited significantly higher VO2 (by 0.23 L x min(-1)) compared with ACE alone, but there were no differences in power output, HR, or VE(BTPS). CONCLUSIONS: These results demonstrate that during submaximal or maximal exercise there was a greater metabolic stress elicited during ACE+ES-LCE compared with during ACE alone. The higher stroke volume observed during submaximal ACE+ES-LCE, in the absence of any difference in HR, implied a reduced venous pooling and higher cardiac volume loading during ACE+ES-LCE. These results suggest that training incorporating ACE+ES-LCE may be more effective in improving aerobic fitness in people with paraplegia than ACE alone.

Adult↗
PubMedDate not supplied

Charcot arthropathy of the spine in long-standing paraplegia.

Three cases of Charcot spinal arthropathy in long-standing (greater than 20 years) paraplegia are presented. In this group of patients with other known chronic infections, the differential diagnosis strongly favored osteomyelitis. Scanning techniques including technetium 99, indium 111, and computed tomography (CT) were used in the extensive work-up and were helpful, although not diagnostic. Closed needle and, in two cases, open biopsies eventually confirmed the diagnosis. The possible occurrence of this neuroarthropathy long after the onset of nonprogressive paraplegia should be kept in mind by those treating spinal cord injured patients.

Aged↗