Articles de revues : « Paraplegin »

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Atorino, Luigia, Laura Silvestri, Mirko Koppen, Laura Cassina, Andrea Ballabio, Roberto Marconi, Thomas Langer et Giorgio Casari. « Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia ». Journal of Cell Biology 163, n^o 4 (17 novembre 2003) : 777–87. http://dx.doi.org/10.1083/jcb.200304112.

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Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to be aberrant in HSP fibroblasts. The loss of this complex causes a reduced complex I activity in mitochondria and an increased sensitivity to oxidant stress, which can both be rescued by exogenous expression of wild-type paraplegin. Furthermore, complementation studies in yeast demonstrate functional conservation of the human paraplegin–AFG3L2 complex with the yeast m-AAA protease and assign proteolytic activity to this structure. These results shed new light on the molecular pathogenesis of HSP and functionally link AFG3L2 to this neurodegenerative disease.

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Koppen, Mirko, Metodi D. Metodiev, Giorgio Casari, Elena I. Rugarli et Thomas Langer. « Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia ». Molecular and Cellular Biology 27, n^o 2 (13 novembre 2006) : 758–67. http://dx.doi.org/10.1128/mcb.01470-06.

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ABSTRACT The m-AAA protease, an ATP-dependent proteolytic complex in the mitochondrial inner membrane, controls protein quality and regulates ribosome assembly, thus exerting essential housekeeping functions within mitochondria. Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. Paraplegin assembles with homologous Afg3l2 subunits into hetero-oligomeric complexes which can substitute for yeast m-AAA proteases, demonstrating functional conservation. The function of a third paralogue, Afg3l1 expressed in mouse, is unknown. Here, we analyze the assembly of paraplegin into m-AAA complexes and monitor consequences of paraplegin deficiency in HSP fibroblasts and in a mouse model for HSP. Our findings reveal variability in the assembly of m-AAA proteases in mitochondria in different tissues. Homo-oligomeric Afg3l1 and Afg3l2 complexes and hetero-oligomeric assemblies of both proteins with paraplegin can be formed. Yeast complementation studies demonstrate the proteolytic activity of these assemblies. Paraplegin deficiency in HSP does not result in the loss of m-AAA protease activity in brain mitochondria. Rather, homo-oligomeric Afg3l2 complexes accumulate, and these complexes can substitute for housekeeping functions of paraplegin-containing m-AAA complexes. We therefore propose that the formation of m-AAA proteases with altered substrate specificities leads to axonal degeneration in HSP.

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Akhtar, Ammara, Sobia Nazir Choudhry, Rana Muhammad Mateen et Mureed Hussain. « Genetics A Comprehensive In Silico Analysis of Deleterious SNPs of Paraplegin Protein Associated with Hereditary Spastic Paraplegia through Mitochondrial Dysfunction ». BioScientific Review 2, n^o 2 (9 juin 2020) : 1–14. http://dx.doi.org/10.32350/bsr.0202.01.

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Hereditary spastic paraplegia (HSP) is a heterogenous neurological disorder primarily associated with progressive spasticity. Paraplegin is a mitochondrial protein and mutations in this protein can lead to HSP. In this study, in silico analysis was carried out to identify the pathogenic variants of SPG7 (paraplegin protein). To find novel pathogenic mutations, missense and splicing variants were collected from gnomAD database and passed through a detailed and stringent analysis with the help of a variety of bioinformatic tools. The list of mutations was examined and compared in ClinVar. Altogether, 14 missense mutations and 18 splicing mutations were obtained and these mutations were predicted to have the potential of disrupting the normal structural and functional properties of paraplegin protein.

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Almomen, MM, KA Martens, A. Hanson, L. Korngut et G. pfeffer. « P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (juin 2018) : S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar syndrome Methods: From a neurogenetic clinic , we identified 11 patients with late-onset HSP. Sequencing of SPG7 and AFG3L2 was performed using a customised assay, and/or clinical diagnostic sequencing panels.SPG7 transcript level quantification was performed from whole blood RNA on a digital droplet qPCR system. Results: We identified 4 patients with pathogenic variants or variants of unknown significance in SPG7. No AFG3L2 mutations were identified. We provide evidence for pathogenicity for three mutations that were not previously associated with SPG7-related disease, based on their occurrence in context of the correct phenotype, and the reduction of transcript levels measured with RT-qPCR.A curious association of the heterozygous p.Gly349Ser mutation in association with an ALS-like syndrome is reported. Conclusions:SPG7 mutations sequencing has high diagnostic yield in late onset paraparesis

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Elleuch, N., C. Depienne, A. Benomar, A. M. O. Hernandez, X. Ferrer, B. Fontaine, D. Grid et al. « Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia ». Neurology 66, n^o 5 (13 mars 2006) : 654–59. http://dx.doi.org/10.1212/01.wnl.0000201185.91110.15.

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Gelbard, Harris A. « Synapses and Sisyphus : life without paraplegin ». Journal of Clinical Investigation 113, n^o 2 (15 janvier 2004) : 185–87. http://dx.doi.org/10.1172/jci20783.

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Gelbard, H. A. « Synapses and Sisyphus : life without paraplegin ». Journal of Clinical Investigation 113, n^o 2 (15 janvier 2004) : 185–87. http://dx.doi.org/10.1172/jci200420783.

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Duvezin-Caubet, Stéphane, Mirko Koppen, Johannes Wagener, Michael Zick, Lars Israel, Andrea Bernacchia, Ravi Jagasia et al. « OPA1 Processing Reconstituted in Yeast Depends on the Subunit Composition of the m-AAA Protease in Mitochondria ». Molecular Biology of the Cell 18, n^o 9 (septembre 2007) : 3582–90. http://dx.doi.org/10.1091/mbc.e07-02-0164.

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The morphology of mitochondria in mammalian cells is regulated by proteolytic cleavage of OPA1, a dynamin-like GTPase of the mitochondrial inner membrane. The mitochondrial rhomboid protease PARL, and paraplegin, a subunit of the ATP-dependent m-AAA protease, were proposed to be involved in this process. Here, we characterized individual OPA1 isoforms by mass spectrometry, and we reconstituted their processing in yeast to identify proteases involved in OPA1 cleavage. The yeast homologue of OPA1, Mgm1, was processed both by PARL and its yeast homologue Pcp1. Neither of these rhomboid proteases cleaved OPA1. The formation of small OPA1 isoforms was impaired in yeast cells lacking the m-AAA protease subunits Yta10 and Yta12 and was restored upon expression of murine or human m-AAA proteases. OPA1 processing depended on the subunit composition of mammalian m-AAA proteases. Homo-oligomeric m-AAA protease complexes composed of murine Afg3l1, Afg3l2, or human AFG3L2 subunits cleaved OPA1 with higher efficiency than paraplegin-containing m-AAA proteases. OPA1 processing proceeded normally in murine cell lines lacking paraplegin or PARL. Our results provide evidence for different substrate specificities of m-AAA proteases composed of different subunits and reveal a striking evolutionary switch of proteases involved in the proteolytic processing of dynamin-like GTPases in mitochondria.

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Pirozzi, M. « Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia ». Journal of Clinical Investigation 116, n^o 1 (8 décembre 2005) : 202–8. http://dx.doi.org/10.1172/jci26210.

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Pirozzi, Marinella, Angelo Quattrini, Gennaro Andolfi, Giorgia Dina, Maria Chiara Malaguti, Alberto Auricchio et Elena I. Rugarli. « Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia ». Journal of Clinical Investigation 124, n^o 2 (3 février 2014) : 871. http://dx.doi.org/10.1172/jci75082.

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Casari, Giorgio, Maurizio De Fusco, Sonia Ciarmatori, Massimo Zeviani, Marina Mora, Patricio Fernandez, Giuseppe De Michele et al. « Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease ». Cell 93, n^o 6 (juin 1998) : 973–83. http://dx.doi.org/10.1016/s0092-8674(00)81203-9.

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Koppen, Mirko, Florian Bonn, Sarah Ehses et Thomas Langer. « Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria ». Molecular Biology of the Cell 20, n^o 19 (octobre 2009) : 4216–24. http://dx.doi.org/10.1091/mbc.e09-03-0218.

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m-AAA proteases are ATP-dependent proteolytic machines in the inner membrane of mitochondria which are crucial for the maintenance of mitochondrial activities. Conserved nuclear-encoded subunits, termed paraplegin, Afg3l1, and Afg3l2, form various isoenzymes differing in their subunit composition in mammalian mitochondria. Mutations in different m-AAA protease subunits are associated with distinct neuronal disorders in human. However, the biogenesis of m-AAA protease complexes or of individual subunits is only poorly understood. Here, we have examined the processing of nuclear-encoded m-AAA protease subunits upon import into mitochondria and demonstrate autocatalytic processing of Afg3l1 and Afg3l2. The mitochondrial processing peptidase MPP generates an intermediate form of Afg3l2 that is matured autocatalytically. Afg3l1 or Afg3l2 are also required for maturation of newly imported paraplegin subunits after their cleavage by MPP. Our results establish that mammalian m-AAA proteases can act as processing enzymes in vivo and reveal overlapping activities of Afg3l1 and Afg3l2. These findings might be of relevance for the pathogenesis of neurodegenerative disorders associated with mutations in different m-AAA protease subunits.

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Kim, Mun ki, Hyeon soo Park, Jea hyeon Cho, Gon sup Kim et Chungkil Won. « Pramipexole protects dopaminergic neurons through paraplegin against 6-hydroxydopamine ». NeuroReport 26, n^o 2 (janvier 2015) : 74–80. http://dx.doi.org/10.1097/wnr.0000000000000303.

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Brugman, F., H. Scheffer, J. H. J. Wokke, W. M. Nillesen, M. de Visser, E. Aronica, J. H. Veldink et L. H. van den Berg. « Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes ». Neurology 71, n^o 19 (17 septembre 2008) : 1500–1505. http://dx.doi.org/10.1212/01.wnl.0000319700.11606.21.

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Banfi, Sandro, Maria Teresa Bassi, Grazia Andolfi, Anna Marchitiello, Stefania Zanotta, Andrea Ballabio, Giorgio Casari et Brunella Franco. « Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene ». Genomics 59, n^o 1 (juillet 1999) : 51–58. http://dx.doi.org/10.1006/geno.1999.5818.

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Coppola, Massimiliano, Alessandro Pizzigoni, Sandro Banfi, Maria Teresa Bassi, Giorgio Casari et Barbara Incerti. « Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene ». Genomics 66, n^o 1 (mai 2000) : 48–54. http://dx.doi.org/10.1006/geno.2000.6136.

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Finsterer, Josef. « Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion ». Movement Disorders 34, n^o 12 (décembre 2019) : 1931–32. http://dx.doi.org/10.1002/mds.27905.

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Mancuso, Giuseppe, Esther Barth, Pietro Crivello et Elena I. Rugarli. « Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum ». PLoS ONE 7, n^o 5 (1 mai 2012) : e36337. http://dx.doi.org/10.1371/journal.pone.0036337.

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Liu, Yihui, Jiang Xu, Wanyun Tao, Changbiao Fu, Jiangbing Liu, Rong Yu et Xinjiang Zhang. « Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family ». European Neurology 81, n^o 1-2 (2019) : 87–93. http://dx.doi.org/10.1159/000500672.

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Background: Primary lateral sclerosis (PLS) is considered a rare variant of motor neuron disease (MND) characterized by selective upper motor neuron dysfunction leading to limb weakness, spasticity, and even bulbar symptoms. Previous studies have demonstrated that mutations in ALSIN, spastic paraplegia 7 (SPG7), TBK1, ALS2, ERLIN2, and FIG4 are responsible for PLS. Most of them occurred in childhood to young-adult onset patients. The aim of this study was to identify the genetic lesion of patients with adult-onset PLS. Methods: We applied whole-exome sequencing (WES) and MND and ataxia-related genes filtering strategies to discover the genetic factors in a Chinese adult-onset PLS family. Sanger sequencing was used in the cosegregation analysis in the affected family members. Results: A mutation (c.2219A>G/p.Y740C) in exon 17 of SPG7 was identified in an adult-onset PLS patient and cosegregated with the affected members in this family. Meanwhile, the mutation was predicted to be deleterious by 3 bioinformatics programs (Polymorphism phenotyping-2, sorting intolerant from tolerant and MutationTaster). This variant may cause the structure changes of paraplegin protein. Conclusions: We employed WES to detect a missense mutation of SPG7 gene in a PLS family. This finding expands the spectrum of known SPG7 mutations, and it may contribute to novel approaches to genetic diagnosis and counseling of families with PLS.

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McDermott, C. J., R. K. Dayaratne, J. Tomkins, M. E. Lusher, J. C. Lindsey, M. A. Johnson, G. Casari, D. M. Turnbull, K. Bushby et P. J. Shaw. « Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England ». Neurology 56, n^o 4 (27 février 2001) : 467–71. http://dx.doi.org/10.1212/wnl.56.4.467.

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Bellinvia, Angelo, Luisa Pastò, Claudia Niccolai, Alessandra Tessa, Riccardo Carrai, Cristiana Martinelli, Marco Moretti et al. « A new paraplegin mutation in a patient with primary progressive multiple sclerosis ». Multiple Sclerosis and Related Disorders 44 (septembre 2020) : 102302. http://dx.doi.org/10.1016/j.msard.2020.102302.

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Thal, Dietmar, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle et Matthis Synofzik. « Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation ». International Journal of Molecular Sciences 16, n^o 10 (21 octobre 2015) : 25050–66. http://dx.doi.org/10.3390/ijms161025050.

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McDermott, Christopher J., Dewi Roberts, Janine Tomkins, Kate M. Bushby et Pamela J. Shaw. « Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND) ». Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 4, n^o 2 (juin 2003) : 96–99. http://dx.doi.org/10.1080/14660820310012718.

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Karlberg, Tobias, Susanne van den Berg, Martin Hammarström, Johanna Sagemark, Ida Johansson, Lovisa Holmberg-Schiavone et Herwig Schüler. « Crystal Structure of the ATPase Domain of the Human AAA+ Protein Paraplegin/SPG7 ». PLoS ONE 4, n^o 10 (20 octobre 2009) : e6975. http://dx.doi.org/10.1371/journal.pone.0006975.

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De la Casa‐Fages, Beatriz, Gorka Fernández‐Eulate, Josep Gamez, Raúl Barahona‐Hernando, Germán Morís, María García‐Barcina, Jon Infante et al. « Reply to : “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion” ». Movement Disorders 34, n^o 12 (décembre 2019) : 1932–33. http://dx.doi.org/10.1002/mds.27899.

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Wecht, Jill M., Ronald E. De Meersman, Joseph P. Weir, Ann M. Spungen et William A. Bauman. « Cardiac homeostasis is independent of calf venous compliance in subjects with paraplegia ». American Journal of Physiology-Heart and Circulatory Physiology 284, n^o 6 (1 juin 2003) : H2393—H2399. http://dx.doi.org/10.1152/ajpheart.01115.2002.

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The purpose of this study was to examine cardiac hemodynamics during acute head-up tilt (HUT) and calf venous function during acute head-down tilt (HDT) in subjects with paraplegia compared with sedentary nondisabled controls. Nineteen paraplegic males (below T6) and nine age-, height-, and weight-matched control subjects participated. Heart rate, stroke volume, and cardiac output were assessed using the noninvasive acetylene uptake method. Venous vascular function of the calf was assessed using venous occlusion plethysmography. After supine measurements were collected, the table was moved to 10° HDT followed by the three levels of HUT (10, 35, and 75°) in random order. Cardiac hemodynamics were similar between the groups at all positions. Calf circumference was significantly reduced in the paraplegic group compared with the control group ( P < 0.001). Venous capacitance and compliance were significantly reduced in the paraplegic compared with control group at supine and HDT. Neither venous capacitance ( P = 0.37) nor compliance ( P = 0.19) increased from supine with 10° HDT in the paraplegic group. A significant linear relationship was established between supine venous compliance and supine cardiac output in the control group ( r = 0.80, P < 0.02) but not in the paraplegic group. The findings of reduced calf circumference and similar venous capacitance at supine rest and 10° HDT in the paraplegic group imply that structural changes may have limited venous dispensability in individuals with chronic paraplegia. Furthermore, the lack of a relationship between supine venous compliance and supine cardiac output suggests that cardiac homeostasis does not rely on venous compliance in subjects with paraplegia.

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Rodenbaugh, David W., Heidi L. Collins, Dustin G. Nowacek et Stephen E. DiCarlo. « Increased susceptibility to ventricular arrhythmias is associated with changes in Ca2+ regulatory proteins in paraplegic rats ». American Journal of Physiology-Heart and Circulatory Physiology 285, n^o 6 (décembre 2003) : H2605—H2613. http://dx.doi.org/10.1152/ajpheart.00319.2003.

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Paraplegia may increase susceptibility to ventricular arrhythmias by altering the autonomic control of the heart. Altered cardiac autonomic control has been documented to change the expression of genes that encode cardiac Ca2+ regulatory proteins. Therefore, we tested the hypothesis that paraplegia alters cardiac electrophysiology with concomitant changes in Ca2+ regulatory proteins in a manner that increases the susceptibility to ventricular arrhythmias. To test this hypothesis, intact ( n = 10) and paraplegic ( n = 6) male Wistar rats were chronically instrumented to measure atrioventricular (AV) interval, sinus cycle length, sinus node recovery time (SNRT), SNRT corrected for spontaneous sinus cycle (cSNRT), Wenckebach cycle length (WCL), and the electrical stimulation threshold to induce ventricular arrhythmias. In addition, relative protein abundance and mRNA expression for sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA), phospholamban, and the Na/Ca exchanger were determined in intact ( n = 8) and paraplegic ( n = 8) rats. Paraplegia significantly ( P < 0.05) reduced AV interval (–25%), sinus cycle length (–24%), SNRT (–28%), cSNRT (–53%), WCL (–19%), and the electrical stimulation threshold to induce ventricular arrhythmia (–48%). Paraplegia significantly increased the relative protein abundances of SERCA (45%) and the Na/Ca exchanger (40%) and decreased phospholamban levels (–28%). In contrast, only the relative mRNA expression of the Na/Ca exchanger was increased (25%) in paraplegic rats. These data demonstrate that paraplegia enhances cardiac electrophysiological properties and alters Ca2+ regulatory proteins in a manner that increases susceptibility to ventricular arrhythmias.

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Ashry, Ahmed, Ayman Tarek Mahmoud et Mohamed Gabr. « Delayed recovery from paraplegia following resections of thoracic meningiomas ». Surgical Neurology International 11 (2 octobre 2020) : 321. http://dx.doi.org/10.25259/sni_575_2020.

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Background: In this retrospective study, we evaluated the patterns of postoperative recovery for patients who were initially paraplegic before the excision of thoracic spine meningiomas. We also determined how the various prognostic factors impacted outcomes. Methods: Twenty patients with paraplegia underwent surgical excision of thoracic spine meningiomas at 2016– 2019. Patients’ demographics, clinical, radiological data, operative details, histopathology, and postoperative complications were recorded; patients were reassessed at 6 months and 1 year postoperatively. Results: Fourteen patients improved postoperatively, becoming, ambulatory with/without assistance; only six remained paraplegic. Poor prognostic factors for postoperative motor recovery included larger tumor size, longer duration of preoperative symptoms/paraplegia, and greater severity of sensory loss. Conclusion: For 6/20 patients with thoracic meningiomas, poor postoperative recovery of motor function correlated with larger tumor size, longer duration of preoperative symptoms/paraplegia, and more severe sensory loss.

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Elegbe, Oloruntoba, Mirdhu Wickremaratchi et Martyn Hinchcliffe. « The Patient with Acute Paraplegia : A Problem-Based Review ». Acute Medicine Journal 10, n^o 1 (1 janvier 2011) : 40–44. http://dx.doi.org/10.52964/amja.0462.

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Acute paraplegia is an emergency requiring immediate assessment by the acute medical team because of the need to rule out compressive lesions of the cord for which intervention may preserve neurological function and limit persistent disability. In addition acute paraplegia could be complicated by life-threatening problems. These require prompt recognition and treatment to prevent further deterioration. The following clinical scenario, based on a real case of acute paraplegia seen by the authors is aimed at providing a problem-based approach to the management of patients presenting with acute paraplegic weakness.

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Lujan, Heidi L., Ying Chen et Stephen E. DiCarlo. « Paraplegia increased cardiac NGF content, sympathetic tonus, and the susceptibility to ischemia-induced ventricular tachycardia in conscious rats ». American Journal of Physiology-Heart and Circulatory Physiology 296, n^o 5 (mai 2009) : H1364—H1372. http://dx.doi.org/10.1152/ajpheart.01286.2008.

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Midthoracic spinal cord injury is associated with ventricular arrhythmias that are mediated, in part, by enhanced cardiac sympathetic activity. Furthermore, it is well known that sympathetic neurons have a lifelong requirement for nerve growth factor (NGF). NGF is a neurotrophin that supports the survival and differentiation of sympathetic neurons and enhances target innervation. Therefore, we tested the hypothesis that paraplegia is associated with an increased cardiac NGF content, sympathetic tonus, and susceptibility to ischemia-induced ventricular tachyarrhythmias. Intact and paraplegic (6–9 wk posttransection, T5 spinal cord transection) rats were instrumented with a radiotelemetry device for recording arterial pressure, temperature, and ECG, and a snare was placed around the left main coronary artery. Following recovery, the susceptibility to ventricular arrhythmias (coronary artery occlusion) was determined in intact and paraplegic rats. In additional groups of matched intact and paraplegic rats, cardiac nerve growth factor content (ELISA) and cardiac sympathetic tonus were determined. Paraplegia, compared with intact, increased cardiac nerve growth factor content (2,146 ± 286 vs. 180 ± 36 pg/ml, P < 0.05) and cardiac sympathetic tonus (154 ± 4 vs. 68 ± 4 beats/min, P < 0.05) and decreased the ventricular arrhythmia threshold (3.6 ± 0.2 vs. 4.9 ± 0.2 min, P < 0.05). Thus altered autonomic behavior increases the susceptibility to ventricular arrhythmias in paraplegic rats.

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Coarelli, Giulia, Rebecca Schule, Bart P. C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik et al. « Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 ». Neurology 92, n^o 23 (8 mai 2019) : e2679-e2690. http://dx.doi.org/10.1212/wnl.0000000000007606.

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ObjectiveWe took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).MethodsWe analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically.ResultsPatients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05), and sphincter dysfunction (p < 0.05) than those with a shorter duration (<10 years, n = 93). Progression, measured by Scale for the Assessment and Rating of Ataxia evaluations, showed a mean annual increase of 1.0 ± 1.4 points in a subgroup of 30 patients. Patients homozygous for loss of function (LOF) variants (n = 65) presented significantly more often with pyramidal signs (p < 0.05), diminished visual acuity due to optic atrophy (p < 0.0001), and deep sensory loss (p < 0.0001) than those with at least 1 missense variant (n = 176). Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, p < 0.05) and showed ataxia at onset (p < 0.05). Neuropathologic examination revealed reduction of the pyramidal tract in the medulla oblongata and moderate loss of Purkinje cells and substantia nigra neurons.ConclusionsThis is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.

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Ferreirinha, Fatima, Angelo Quattrini, Marinella Pirozzi, Valentina Valsecchi, Giorgia Dina, Vania Broccoli, Alberto Auricchio et al. « Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport ». Journal of Clinical Investigation 113, n^o 2 (15 janvier 2004) : 231–42. http://dx.doi.org/10.1172/jci200420138.

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Lin, Xiang, Hui-Zhen Su, En-Lin Dong, Xiao-Hong Lin, Miao Zhao, Can Yang, Chong Wang et al. « Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia ». Brain 142, n^o 8 (15 juin 2019) : 2238–52. http://dx.doi.org/10.1093/brain/awz158.

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Abstract Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of the corticospinal tract. Clinical characterization of patients with hereditary spastic paraplegias represents progressive spasticity, exaggerated reflexes and muscular weakness. Here, to expand on the increasingly broad pools of previously unknown hereditary spastic paraplegia causative genes and subtypes, we performed whole exome sequencing for six affected and two unaffected individuals from two unrelated Chinese families with an autosomal dominant hereditary spastic paraplegia and lacking mutations in known hereditary spastic paraplegia implicated genes. The exome sequencing revealed two stop-gain mutations, c.247_248insGTGAATTC (p.I83Sfs*11) and c.526G>T (p.E176*), in the ubiquitin-associated protein 1 (UBAP1) gene, which co-segregated with the spastic paraplegia. We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and c.425_426delAG (p.K143Sfs*15), in two unrelated families from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causative genes. The primary disease presentation was a pure lower limb predominant spastic paraplegia. In vivo downregulation of Ubap1 in zebrafish causes abnormal organismal morphology, inhibited motor neuron outgrowth, decreased mobility, and shorter lifespan. UBAP1 is incorporated into endosomal sorting complexes required for transport complex I and binds ubiquitin to function in endosome sorting. Patient-derived truncated form(s) of UBAP1 cause aberrant endosome clustering, pronounced endosome enlargement, and cytoplasmic accumulation of ubiquitinated proteins in HeLa cells and wild-type mouse cortical neuron cultures. Biochemical and immunocytochemical experiments in cultured cortical neurons derived from transgenic Ubap1flox mice confirmed that disruption of UBAP1 leads to dysregulation of both early endosome processing and ubiquitinated protein sorting. Strikingly, deletion of Ubap1 promotes neurodegeneration, potentially mediated by apoptosis. Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia.

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Richter, Uwe, Kah Ying Ng, Fumi Suomi, Paula Marttinen, Taina Turunen, Christopher Jackson, Anu Suomalainen et al. « Mitochondrial stress response triggered by defects in protein synthesis quality control ». Life Science Alliance 2, n^o 1 (25 janvier 2019) : e201800219. http://dx.doi.org/10.26508/lsa.201800219.

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Mitochondria have a compartmentalized gene expression system dedicated to the synthesis of membrane proteins essential for oxidative phosphorylation. Responsive quality control mechanisms are needed to ensure that aberrant protein synthesis does not disrupt mitochondrial function. Pathogenic mutations that impede the function of the mitochondrial matrix quality control protease complex composed of AFG3L2 and paraplegin cause a multifaceted clinical syndrome. At the cell and molecular level, defects to this quality control complex are defined by impairment to mitochondrial form and function. Here, we establish the etiology of these phenotypes. We show how disruptions to the quality control of mitochondrial protein synthesis trigger a sequential stress response characterized first by OMA1 activation followed by loss of mitochondrial ribosomes and by remodelling of mitochondrial inner membrane ultrastructure. Inhibiting mitochondrial protein synthesis with chloramphenicol completely blocks this stress response. Together, our data establish a mechanism linking major cell biological phenotypes of AFG3L2 pathogenesis and show how modulation of mitochondrial protein synthesis can exert a beneficial effect on organelle homeostasis.

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Giacomini, Leonardo, Roger Neves Mathias, Andrei Fernandes Joaquim, Mateus Dal Fabbro, Enrico Ghizoni et Helder Tedeschi. « Is there a right time for surgery in paraplegic patients secondary to non traumatic spinal cord compression ? » Einstein (São Paulo) 10, n^o 4 (décembre 2012) : 508–11. http://dx.doi.org/10.1590/s1679-45082012000400020.

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Paraplegia is a well-defined state of complete motor deficit in lower limbs, regardless of sensory involvement. The cause of paraplegia usually guides treatment, however, some controversies remain about the time and benefits for spinal cord decompression in nontraumatic paraplegic patients, especially after 48 hours of the onset of paraplegia. The objective of this study was to evaluate the benefits of spinal cord decompression in such patients. We describe three patients with paraplegia secondary to non-traumatic spinal cord compression without sensory deficits, and who were surgically treated after more than 48 hours of the onset of symptoms. All patients, even those with paraplegia during more than 48 hours, had benefits from spinal cord decompression like recovery of gait ability. The duration of paraplegia, which influences prognosis, is not a contra-indication for surgery. The preservation of sensitivity in this group of patients should be considered as a positive prognostic factor when surgery is taken into account.

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Shin, Sanghoon, Jinyoung Park, Juntaek Hong et Jung Hyun Park. « Improved gait speed in spastic paraplegia : a new modality ». BMJ Supportive & ; Palliative Care 10, n^o 4 (14 juin 2019) : e41-e41. http://dx.doi.org/10.1136/bmjspcare-2018-001738.

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ObjectivesThe gait disturbance in spastic paraplegic patients lowers the gait speed, increases fall risk and eventually lower the quality of life. This study aims to investigate the effect of electrical twitch obtaining intramuscular stimulation (ETOIMS) on spastic paraplegic patients’ gait speed and pattern.MethodsA prospective short-term cohort study was designed in the outpatient clinic of the department of rehabilitation in a tertiary hospital. Patients with spastic paraplegia (N=5) were participated, including spinal cord tumour (N=2), cervical myelitis (N=1), hereditary spastic paraplegia (NIPA1 mutation; N=1) and spinal cord injury (N=1). The participants underwent ETOIMS. The target muscles were the bilateral quadratus lumborum, multifidus inserting to the L4 and L5 spinous process, and gluteus medius. Gait speed, gait pattern and subjective symptoms, including pain scores (measured by visual analogue scale), were compared before and immediately after the intervention.ResultsAll patients subjectively reported reduced stiffness during walking and alleviated muscular pain in the lower back and gluteal area. After one session of ETOIMS, patient 1–4 showed 57%, 29%, 33% and 6 % improvement in gait speed, respectively, and all patients showed increased pelvic dissociation.ConclusionsThe ETOIMS can be effective in improving gait speed and stability by relaxing the muscles or alleviating the pain in the lower back and gluteal area in spastic paraplegic patients.

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Dreyer, Hans C., Erin L. Glynn, Heidi L. Lujan, Christopher S. Fry, Stephen E. DiCarlo et Blake B. Rasmussen. « Chronic paraplegia-induced muscle atrophy downregulates the mTOR/S6K1 signaling pathway ». Journal of Applied Physiology 104, n^o 1 (janvier 2008) : 27–33. http://dx.doi.org/10.1152/japplphysiol.00736.2007.

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Ribosomal S6 kinase 1 (S6K1) is a downstream component of the mammalian target of rapamycin (mTOR) signaling pathway and plays a regulatory role in translation initiation, protein synthesis, and muscle hypertrophy. AMP-activated protein kinase (AMPK) is a cellular energy sensor, a negative regulator of mTOR, and an inhibitor of protein synthesis. The purpose of this study was to determine whether the hypertrophy/cell growth-associated mTOR pathway was downregulated during muscle atrophy associated with chronic paraplegia. Soleus muscle was collected from male Sprague-Dawley rats 10 wk following complete T4–T5 spinal cord transection (paraplegic) and from sham-operated (control) rats. We utilized immunoprecipitation and Western blotting techniques to measure upstream [AMPK, Akt/protein kinase B (PKB)] and downstream components of the mTOR signaling pathway [mTOR, S6K1, SKAR, 4E-binding protein 1 (4E-BP1), and eukaryotic initiation factor (eIF) 4G and 2α]. Paraplegia was associated with significant soleus muscle atrophy (174 ± 8 vs. 240 ± 13 mg; P < 0.05). There was a reduction in phosphorylation of mTOR, S6K1, and eIF4G ( P < 0.05) with no change in Akt/PKB or 4E-BP1 ( P > 0.05). Total protein abundance of mTOR, S6K1, eIF2α, and Akt/PKB was decreased, and increased for SKAR ( P < 0.05), whereas 4E-BP1 and eIF4G did not change ( P > 0.05). S6K1 activity was significantly reduced in the paraplegic group ( P < 0.05); however, AMPKα2 activity was not altered (3.5 ± 0.4 vs. 3.7 ± 0.5 pmol·mg−1·min−1, control vs. paraplegic rats). We conclude that paraplegia-induced muscle atrophy in rats is associated with a general downregulation of the mTOR signaling pathway. Therefore, in addition to upregulation of atrophy signaling during muscle wasting, downregulation of muscle cell growth/hypertrophy-associated signaling appears to be an important component of long-term muscle loss.

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Mussa, S., S. Kakar et G. Bentley. « Total Hip Arthroplasty for Late Hip Dislocation in Paraplegia ». HIP International 12, n^o 3 (juillet 2002) : 338–41. http://dx.doi.org/10.1177/112070000201200310.

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Late hip dislocation is uncommon, particularly in the context of paraplegia. We report a case in which total hip arthroplasty with a semi-constrained acetabular component was a successful treatment for this condition. A review of the literature revealed that this method of treatment had not been previously described in paraplegics. For patients with late hip dislocation in spastic paraplegia, total hip arthroplasty with a semi-constrained acetabular component, combined with adequate adductor release and obturator neurectomy is recommended.

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Azevedo, ERFBM, KC Alonso et A. Cliquet. « Body composition assessment by bioelectrical impedance analysis and body mass index in individuals with chronic spinal cord injury ». Journal of Electrical Bioimpedance 7, n^o 1 (8 août 2019) : 2–5. http://dx.doi.org/10.5617/jeb.2421.

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Abstract Purpose: To assess body composition and obesity in individuals with spinal cord injury (SCI) who practice and do not practice physical activity using body mass index (BMI) and bioelectrical impedance analysis (BIA). Methods: 39 patients with SCI went through BIA evaluation and BMI was assessed. Patients were divided into four groups according to injury level (paraplegia or tetraplegia) and physical activity achievement (active or inactive). Results: 22 individuals with paraplegia (7 active and 15 inactive) and 17 with tetraplegia (5 active and 12 inactive) were evaluated. BMI, fat percentage, fat mass, lean tissue mass, total body water (TBW), and TBW percentage were assessed in groups. Tetraplegic inactive groups showed higher fat percentage featuring obesity. For paraplegic active group mean fat percentage was 19.61% (±9.27) and mean fat mass was 16.66 kg (±9.71) and for paraplegic inactive group fat percentage was 23.27% (±5.94) and fat mass 18.59 kg (±7.58). For tetraplegic groups in active group the fat percentage was 17.14% (±6.32) and fat mass was 11.22 kg (±5.16) and for inactive group mean fat percentage was 33.68% (±4.74) and fat mass was 25.59 kg (±2.91). When paraplegic and tetraplegic inactive groups were compared differences were observed in fat percentage (p = 0.0003) and fat mass (p = 0.0084). Also, when tetraplegic groups (activeXinactive) were compared differences in percentage (p = 0.0019) and fat mass (p = 0.034) were observed. Only for the paraplegic inactive group BMI result was higher than 25 kg/m2. Conclusion: BMI does not discriminate between obesity levels in individuals with SCI and physical activity can improve body composition and prevent obesity in SCI patients.

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Yoo, Kyung Y., JongUn Lee, Hak S. Kim et Woong M. Im. « Hemodynamic and Catecholamine Responses to Laryngoscopy and Tracheal Intubation in Patients with Complete Spinal Cord Injuries ». Anesthesiology 95, n^o 3 (1 septembre 2001) : 647–51. http://dx.doi.org/10.1097/00000542-200109000-00017.

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Background Endotracheal intubation in patients undergoing general anesthesia often causes hypertension and tachycardia, which may be altered when the efferent sympathetic fiber to the cardiovascular system is interrupted. The aim of the current study was to investigate the effects of different levels of spinal cord injury on the cardiovascular responses to intubation. Methods Fifty-four patients with traumatic complete cord injuries requiring tracheal intubation were grouped into quadriplegics (above C7; n = 22), high paraplegics (T1-T4, n = 8), and low paraplegics (below T5, n = 24) according to the level of injury. Twenty patients without spinal injury served as controls. Arterial pressure, heart rate, and rhythm were recorded at intervals for up to 5 min after intubation. Plasma concentrations of catecholamines were also measured. Results The intubation increased the systolic blood pressure similarly in control, high-paraplegic, and low-paraplegic groups (P < 0.05), whereas it did not alter the blood pressure in the quadriplegic group. Heart rate was significantly increased in all groups; however, the magnitude was more pronounced in the high-paraplegic group (67%) than in the control (38%) and quadriplegic (33%) groups. Plasma concentrations of norepinephrine were significantly increased after intubation in all groups; however, values were lower in the quadriplegic group and higher in the low-paraplegic group compared with those in the control group. Incidence of arrhythmias did not differ among groups. Conclusions The cardiovascular and plasma catecholamine changes associated with endotracheal intubation may differ according to the affected level in patients with complete spinal cord injuries.

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Morita, Tomoyo, et Eiichi Naito. « Facilitation of Hand Proprioceptive Processing in Paraplegic Individuals with Long-Term Wheelchair Sports Training ». Brain Sciences 12, n^o 10 (26 septembre 2022) : 1295. http://dx.doi.org/10.3390/brainsci12101295.

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Previous studies have revealed drastic changes in motor processing in individuals with congenital or acquired limb deficiencies and dysfunction. However, little is known about whether their brains also exhibit characteristic proprioceptive processing. Using functional magnetic resonance imaging, we examined the brain activity characteristics of four individuals with congenital or acquired paraplegia (paraplegic group) who underwent long-term wheelchair sports training, when they passively experienced a right-hand movement (passive task) and when they actively performed a right-hand motor task (active task), compared to 37 able-bodied individuals (control group). Compared with the control group, the paraplegic group showed significantly greater activity in the foot section of the left primary motor cortex and in the inferior frontoparietal proprioceptive network during the passive task. In the paraplegic group, the left intraparietal sulcus region was activated during the passive task, but suppressed during the active task, which was not observed in the control group. This shows the facilitation of hand proprioceptive processing and unique usage of the intraparietal sulcus region in proprioceptive motor processing in the brains of paraplegic individuals with long-term wheelchair sports training.

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Srivastava, Sudhir, Aditya Raj, Rishi Agarwal, Sunil Bhosale et Nandan Marathe. « Management dilemma of tuberculous paraplegia in pregnancy – A case report and review of literature ». Surgical Neurology International 11 (29 décembre 2020) : 470. http://dx.doi.org/10.25259/sni_772_2020.

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Background: Tuberculosis (TB)/tuberculous spondylodiscitis of the spine causing paraplegia in the 2nd trimester of pregnancy is rare and poses significant management dilemmas. Pregnancy, a relatively immunocompromised state with high hormonal levels, may prompt rapid TB destruction of a vertebral body resulting in an acute/ profound neurological deficit. Here, a pregnant paraplegic mother was diagnosed with spondylodiscitis that warranted immediate decompression/fusion to achieve neurological recovery. Case Description: A 26-year-old female was 23 weeks pregnant when she presented with an acute spastic paraplegia (complete motor, sensory deficit, and sphincter loss). Operative decompression utilized a Versatile Approach along with a “Hartshill rectangle” for fusion and sublaminar wiring. This procedure accomplished simultaneous anterior and posterior fixation with a single approach without the need for intraoperative radiologic imaging. Although the pregnancy was continued with an uneventful perioperative period, intra-uterine fetal demise was documented 1 month postoperatively. Within 18 postoperative months the patient was neurologically intact, and fusion was confirmed on a computed tomography scan. Conclusion: A 23-week pregnant female acutely became paraplegic due to T5 tuberculous spondylitis confirmed on an X-ray (only source of radiation), and magnetic resonance imaging. Following a decompression/ instrumented fusion performed without fluoroscopic guidance, the patient regained full neurological function. However, 1 month postoperatively, the fetus spontaneously aborted.

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Silva, Gelson Aguiar da, Juliana Neves da Costa et Thelma Leite de Araujo. « Cuidado de enfermagem ao portador de paraplegia à luz do modelo de adaptação de Roy ». Revista de Enfermagem UFPE on line 3, n^o 3 (3 juillet 2009) : 656. http://dx.doi.org/10.5205/reuol.149-181-1-rv.0303200929.

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ABSTRACT Objective: to analyze the nursing care adequacy to the paraplegic carrier based on the Model of Adaptation of Roy. Method: case study, qualitative character carried through with a traumatic paraplegic carrier, in phase of medullar shock, in public institution in Fortaleza city, Ceará, Brazil, from October to November 2007. It’s used the process of nursing proposed by Roy, who understands in: behaviors evaluation, stimulus evaluation, nursing diagnosis, goals establishment, interventions and evaluation. Results: it had been identified alterations in the physiological mode, the presence of interference from internal stimulus, connected to the proper spinal cord injury and of external stimulus to the socioeconomic conditions of this individual in the adaptation to its new life condition. Conclusion: the alterations related to the autoconcept mode, performance role and interdependence are at risk constant of appearance, thus needing the implementation of specific interventions of nursing to this patient, with propose to minimize the problems with the involvement and the family’s participation during the rehabilitation. Descriptors: models theoretical; nursing care; paraplegic; rehabilitation.RESUMOObjetivo: teve como objetivo analisar a adequação do cuidado de enfermagem ao paciente com lesão medular baseado no Modelo de Adaptação de Roy. Método: estudo de caso, de caráter qualitativo realizado com um paciente paraplégico traumático, em fase de choque medular, em instituição pública de Fortaleza, Ceará, no período de outubro a novembro de 2007. Utilizou-se o processo de enfermagem proposto por Roy, que compreende em: avaliação de comportamentos, avaliação de estímulos, diagnóstico de enfermagem, estabelecimento de metas, intervenções e avaliação. Resultados: a partir dos resultados, foram identificadas alterações no modo fisiológico, a presença de interferência dos estímulos internos, relacionados à própria lesão medular e de estímulos externos às condições socioeconômicas deste indivíduo na adaptação à sua nova condição de vida. Conclusão: considera-se que as alterações relacionadas aos modos de autotoconceito, desempenho de papéis e interdependência estão em risco constante de aparecimento, necessitando assim da implementação de intervenções de enfermagem específicas à este tipo de paciente, objetivando minimizar os problemas com o envolvimento e a participação da família durante a reabilitação. Descritores: modelos teóricos; cuidados de enfermagem; paraplegia; reabilitação.RESUMENObjetivo: el analizar la adequacion del cuidado del enfermería la un portador de paraplejia traumática basado en el modelo de la adaptación de Roy. Método: estudio del caso, del carácter cualitativo llevado con un portador de paraplejia traumática, en la fase del shock medular, en una institución pública del Fortaleza, Ceará, en el período de octubre a noviembre de 2007. Fue utilizado el proceso del enfermería propuesto pero Roy, en quien entiende: evaluación de comportamientos, evaluación de estímulos, diagnósticos del enfermería, establecimiento de metas, intervenciones y evaluación. Resultados: fueron dentificadas las alteraciones en el modo fisiológico, la presencia de interferencia de los estímulos internos, relacionado con la propia lesión medular y del los estímulos externos a las condiciones socioeconómicas de este individuo en la adaptación a su nueva condición de la vida. Conclusión: se considera que las alteraciones relacionada con los modos del autoconcepto, desempeño de papel y la interdependencia son en riesgo constante del aparecimiento, necesitando así de la implementación de intervenciones del enfermería especificas al este tipo de paciente, objetivando reducir al mínimo los problemas con el envolvement y la participación de la familia durante la rehabilitación. Descriptores: modelos teóricos; atención de enfermería; paraplejia; rehabilitación.

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Mesquita Junior, Nelson, Flavia Natalia Marques Kingerski, Giovana Liz Marioto, Fabio Alex Fonseca Viegas, Suzelaine Fidelis da Silva Mesquita et Sonia Perreto. « Prevalence of deep vein thrombosis in patients with paraplegia caused by traumas ». Jornal Vascular Brasileiro 12, n^o 4 (21 octobre 2013) : 271–77. http://dx.doi.org/10.1590/jvb.2013.051.

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BACKGROUND: Deep vein thrombosis is a common disease among people who are immobilized. Immobility is inherent to paraplegia and leads to venous stasis, which is one of the factors covered by Virchow's triad describing its development. Trauma is the primary cause of paraplegia and is currently increasing at a rate of 4% per year. OBJECTIVE: To determine the prevalence of deep vein thrombosis in paraplegic patients whose paraplegia was caused by traumas, using color Doppler ultrasonography for diagnosis. METHODS: This was a cross-sectional observational study of 30 trauma-induced paraplegia patients, selected after analysis of medical records at the neurosurgery department of a University Hospital in Curitiba, Brazil, and by a proactive survey of associations that care for the physically disabled. The prevalence of deep vein thrombosis was analyzed using 95% confidence intervals. RESULTS: Spinal cord trauma was the cause of paraplegia in 29 patients. The most common cause of trauma was gunshot wounding, reported by 17 patients. Deep vein thrombosis was diagnosed by color Doppler ultrasonography in 14 patients in the sample. The most often affected vein was the posterior tibial, in 11 patients. The left lower limb was involved three times more often than the right. Edema was observed in 25 individuals, cyanosis in 14, ulcers in 8 and localized increase in temperature in 13. CONCLUSIONS: Deep vein thrombosis was prevalent, occurring in 46.7% of the patients.

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Ehses, Sarah, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I. Rugarli et Thomas Langer. « Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1 ». Journal of Cell Biology 187, n^o 7 (28 décembre 2009) : 1023–36. http://dx.doi.org/10.1083/jcb.200906084.

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Mitochondrial fusion depends on the dynamin-like guanosine triphosphatase OPA1, whose activity is controlled by proteolytic cleavage. Dysfunction of mitochondria induces OPA1 processing and results in mitochondrial fragmentation, allowing the selective removal of damaged mitochondria. In this study, we demonstrate that two classes of metallopeptidases regulate OPA1 cleavage in the mitochondrial inner membrane: isoenzymes of the adenosine triphosphate (ATP)–dependent matrix AAA (ATPase associated with diverse cellular activities [m-AAA]) protease, variable assemblies of the conserved subunits paraplegin, AFG3L1 and -2, and the ATP-independent peptidase OMA1. Functionally redundant isoenzymes of the m-AAA protease ensure the balanced accumulation of long and short isoforms of OPA1 required for mitochondrial fusion. The loss of AFG3L2 in mouse tissues, down-regulation of AFG3L1 and -2 in mouse embryonic fibroblasts, or the expression of a dominant-negative AFG3L2 variant in human cells decreases the stability of long OPA1 isoforms and induces OPA1 processing by OMA1. Moreover, cleavage by OMA1 causes the accumulation of short OPA1 variants if mitochondrial DNA is depleted or mitochondrial activities are impaired. Our findings link distinct peptidases to constitutive and induced OPA1 processing and shed new light on the pathogenesis of neurodegenerative disorders associated with mutations in m-AAA protease subunits.

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Olmez, Akgun, et Haluk Topaloglu. « Hereditary spastic paraplegia:Pathogenesis and pathophysiology ». NATIONAL JOURNAL OF NEUROLOGY, n^o 5 (4 décembre 2018) : 1–13. http://dx.doi.org/10.28942/nnj.v1i5.105.

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Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. How different genes with many different biological functions, including axonal transport, mitochondrial functions, fatty acid and cholesterol pathways and DNA repair defects, cause hereditary spastic paraplegia is still unknown.

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Peters, Jan, Hans-Christian Köhler, André Gutcke et Christoph Schulze. « Fixing a Subtrochanteric Femoral Fracture with a Humerus Nail ». Ortopedia Traumatologia Rehabilitacja 24, n^o 2 (30 avril 2022) : 133–37. http://dx.doi.org/10.5604/01.3001.0015.8375.

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A 17-year-old paraplegic patient sustained a subtrochanteric femoral fracture due to inadequate trauma. The unusual anatomical conditions associated with his congenital paraplegia did not allow treatment with a standard intramedullary implant for the femur. Because his soft tissues were already compromised, alternative options like plate osteosynthesis were considered unfavourable as a salvage procedure. Therefore, we used an implant designed for the humerus. A satisfactory result of osteosynthesis was achieved despite varus deformity, shortening and rotational error.

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Woźniewicz, Agnieszka, Joanna Kalinowska, Małgorzata Anna Basińska et Bogdan Pietrulewicz. « Personal resources and daily life fatigue in caregivers of persons with paraplegia ». Polish Journal of Applied Psychology 12, n^o 4 (1 décembre 2014) : 29–40. http://dx.doi.org/10.1515/pjap-2015-0019.

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Abstract Taking care of a paraplegic may contribute to the caregiver’s fatigue. Sixty family caregivers participated in our study, out of which 30 provided care for paraplegics in hospital, and 30 for paraplegics at home. The Orientation to Life Qestionnaire (SOC-29) was used to measure individual sense of coherence, The Life Orientation Test - Revised for dispositional optimism, The Polish Resiliency Assessment Scale for resiliency, and The Daily Life Fatigue Questionnaire for daily life fatigue. In order to collect data about caregivers an individual examination was applied. People with higher personal resource levels such as sense of coherence, optimism and resiliency are characterized by less severe daily life fatigue.

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Amin, Shaunak N., Jennifer P. Rodney et Alexander Gelbard. « Open Airway Surgery in a Paraplegic : The Importance of an Adequate Cough ». Annals of Otology, Rhinology & ; Laryngology 128, n^o 12 (31 juillet 2019) : 1194–97. http://dx.doi.org/10.1177/0003489419866471.

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Objectives: To describe a case of open airway surgery with postoperative respiratory complications in a paraplegic woman and to review the unique respiratory physiology seen in patients with a history of cervical or thoracic spinal cord injury (SCI). Methods Case report and literature review. Results: We describe the case of a 25-year-old paraplegic who developed tracheal stenosis after tracheotomy, eventually requiring tracheal resection and re-anastomosis. Her postoperative course was complicated by mucus plugging and severe atelectasis, necessitating reintubation. After extubation, the patient reported difficulty expectorating secretions ever since her SCI, requiring manual abdominal pressure from her family members to assist her when she needed to cough. Conclusion: This first report of cricotracheal resection in a patient with paraplegia following SCI highlights the importance of an adequate cough and demonstrates the unique respiratory management necessary for patients with SCI.

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Yu, John S., M. Priscilla Short, James Schumacher, Paul H. Chapman et Griffith R. Harsh. « Intramedullary hemorrhage in spinal cord hemangioblastoma ». Journal of Neurosurgery 81, n^o 6 (décembre 1994) : 937–40. http://dx.doi.org/10.3171/jns.1994.81.6.0937.

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✓ The authors describe two cases of intramedullary hemorrhage caused by thoracic hemangioblastoma. Both patients presented with acute paraplegia. The lesion in the first case was diagnosed by myelography and in the second by magnetic resonance imaging. Emergency surgical evacuation of the intramedullary hematoma and tumor was performed in these patients. Hemangioblastoma was confirmed by histopathological examination in both cases. Both patients remain paraplegic after 7 and 1 years, respectively. Intramedullary hemorrhage is a rare and devastating effect of spinal hemangioblastoma.

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