Author: "R. Mercelis" - Searchworks@Jio Institute Digital Library Search Results

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1. Highly heterogeneous nature of δ-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria

Author: Ylva Floderus, Yutaka Horie, Stig Thunell, Luba Garbaczewski, Shigeru Sassa, Nicholas Chiorazzi, Luc Verstraeten, Kuniaki Meguro, Kazumichi Furuyama, Pauline Harper, Motoyoshi Maruno, A. Hassoun, Manfred O. Doss, Reiko Akagi, and R. Mercelis
Subjects: Male, Adolescent, Recombinant Fusion Proteins, Immunoblotting, Immunology, Mutant, Gene Expression, medicine.disease_cause, Biochemistry, Mice, Porphyrias, Antibody Specificity, Gene expression, Escherichia coli, medicine, Animals, Humans, Glutathione Transferase, chemistry.chemical_classification, Mice, Inbred BALB C, Mutation, biology, Porphobilinogen synthase, Infant, Newborn, Antibodies, Monoclonal, Porphobilinogen Synthase, Cell Biology, Hematology, Middle Aged, medicine.disease, Fusion protein, Phenotype, Enzyme, Porphyria, chemistry, biology.protein, Female
Abstract: The properties of 9 delta -aminolevulinate dehydratase (ALAD) mutants from patients with ALAD porphyria (ADP) were examined by bacterial expression of their complementary DNAs and by enzymologic and immunologic assays. ALADs were expressed as glutathione-S-transferase (GST) fusion proteins in Escherichia coli and purified by glutathione-affinity column chromatography. The GST-ALAD fusion proteins were recognized by anti-ALAD antibodies and were enzymatically active as ALAD. The enzymatic activities of 3 ALAD mutants, K59N, A274T, and V153M, were 69.9%, 19.3%, and 41.0% of that of the wild-type ALAD, respectively, whereas 6 mutants, G133R, K59N/G133R, F12L, R240W, V275M, and deITC, showed little activity (< 8%). These variations generally reflect the phenotype of ALAD in vivo in patients with ADP and indicate that GST-ALAD fusion protein is indeed useful for predicting of the phenotype of ALAD mutants. The location of F12L mutation in the enzyme's molecular structure indicates that its disturbance of the quaternary contact of the ALAD dimer appears to have a significant influence on the enzymatic activity. Mouse monoclonal antibodies to human ALAD were developed that specifically recognized a carboxy terminal portion of ALAD, or other regions In the enzyme. This study represents the first complete analysis of 9 mutants of ALAD identified In ADP and indicates the highly heterogeneous nature of mutations in this disorder. (Blood. 2001;97:2972-2978) (C) 2001 by The American Society of Hematology.
Published: 2001
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2. Patient homozygous for a recessive POLG mutation presents with features of MERRF

Author: R. Mercelis, Sara Seneca, Ann Löfgren, J.J. Martin, Chantal Ceuterick, C. Van Broeckhoven, G. Van Goethem, and Department of Embryology and Genetics
Subjects: Male, Myoclonus, Ataxia, Adolescent, DNA Mutational Analysis, Genes, Recessive, ragged red fibers (RRF), DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, Epilepsy, Seizures, medicine, Humans, Missense mutation, Allele, Muscle, Skeletal, Alleles, Genetics, Mutation, External ophthalmoplegia, Homozygote, MERRF syndrome, DNA, medicine.disease, progressive external ophthalmoplegia, MERRF Syndrome, eye diseases, DNA Polymerase gamma, Haplotypes, POLG, PEO, Neurology (clinical), medicine.symptom
Abstract: Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).
Published: 2003
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3. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain

Author: H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. Murray, M. Parent, M. Koepp, V. Dimova, D. De Leo, K. Jellinger, G. Salemi, S. Mientus, M. L. Hansen, F. Mazzucchelli, J. Vieth, M. Mauri, E. Bartels, L. Johannsen, C. Humphreys, J. Emile, D. N. Landon, E. Kansu, R. Sanchez-Pernaute, Rsj Frackowiak, M. Gonzalez Torres, L. Oller, C. Machedo, J. Kother, M. Billiard, H. Durak, T. Schindler, A. Frank, A. Uncini, A. Sbriccoli, C. Farinas, D. W. Paty, N. Fast, A. T. Zangaladze, A. Kerkhofs, J. M. Pino Garcia, I. De la Fuente, B. Marini, L. Gomez, I. Rubio, Alessandra Bardoni, C. Brodie, P. Acin, U. Sliwka, S. A. Hawkins, S. Tardieu, F. Vitullo, J. M. Pereira Monteino, R. Gagliardi, T. Jezewski, A. Cano, T. Lempert, F. Abad Alegria, G. Rotondo, D. Ince, C. Martinez Parra, Y. Huang, H. Luders, Y. Steinvil, F. G. A. Van Der Meche, R. Bianchi, A. Sanchez, T. Sevilla, J. M. Ketelslegers, A. Domzal-Stryga, M. Pandolfo, M. O. Josse, K. W. Neff, I. Blanco, G. W. Bruyn, O. W. Witte, J. L. Thibault, G. Andersen, J. Pariset, A. Marcone, R. J. M. Lane, A. Hofman, M. Verin, T. Matilla, P. Bedoucha, J. Roche, M. Lai, M. Collard, A. Ugarte, F. Gallecho, D. Silbersweig, C. Kennard, J. P. Azulay, T. W. Ho, P. L. I. Dellemijn, R. Girardello, F. Baas, B. Voss, F. Rozenberg, E. M. Brocker, V. Stanev, A. A. J. Soeterboek, A. Marra, A. Rey, E. Ertem, M. Sawradewicz-Rybak, J. De Keyser, P. Cavallari, F. Proust, Y. Chevalier, H. C. Hansen, D. Leys, C. A. Davie, K. Hoang-Xuan, C. Bairati, H. van Crevel, Thomas T. Warner, B. Bompais, A. Dobbeleir, T Campbell, C. Macko, C. J. M. Klijn, M. Dussallant, T. P. Berlit, W. Rozenbaum, M. J. van den Bent, W. A. Rocca, M. Muller, H. Hundemer, U. Zifko, M. Campera, F. Drislane, D. Ranoux, T. M. Kloss, Anil Kumar, I. Ruolt, C. Bargnani, B. Marescau, N. A. Losseff, S. Notermans, B. Kint, E. T. Burke, C. Aykut, J. Matias Guiu, P. Maquet, T. Drogendijk, M. Leone, K. von Ammon, M. Pepeliarska, C. Prados, L. DiGiamberardino, T. Logtenberg, G. Lenoir, I. Castaldo, Damhaut, M. Radionova, G. Sirabian, R. Navon, Giovanni Antonini, K. Al Moutaery, E. Chamas, R. Schönhuber, M. Giannini, B. Debilly, I. Labatut, H. Henon, J. A. Egido, M. Baudrimont, J. N. Lorenzo, J. E. C. Bromberg, R. Antonacci, J. J. Vilchez, T. Moulin, B. Rautenstrauss, Giovanni Meola, J. Noth, S Mammi, P. Laforet, F. Lopez, C. Gehring, S. Bort, G. Rancurel, D. Decamps, S. Kostadinova, Y. Shapira, B. Neundoerfer, D. Chavrot, M. Solimena, J. P. Salier, W. Deberdt, R. Hoff-Jörgensen, A. Messina, S. Meairs, G. Rosoklija, E. Nelis, I. Bertran, C. Ertekin, J. Lohmeyer, Mitermayer Galvao dos Reis, L. Calo, E. Maccagnano, A. P. Hays, J. Verlooy, M. G. Forno, T. Blanco, L. Bail, Gabriella Silvestri, J. Montero, F. Bertrand, R. T. Ghnassia, C. Besses, T. Sereghy, F. Shalit, G. Bogliun, S. Braghi, St. Baykouchev, C. Franke, A. Lasa, L. C. Archard, J. Kriebel, S. Shaunak, M. Nocito, Alexander Tsiskaridze, E. Manfredini, T. Seigal, David G. Gadian, M. Barlas, J. D. Degos, C. Seeber, J. Caemert, J. L. Mas, R. B. Pepinsky, M. G. D'Angelo, N. Baumann, S. Yorifuji, H. P. Endtz, M. A. Cassatella, R. A. C. Hughes, V. Golzi, A. Bittencourt, A. Ferreira, M. Sanson, C. Alper, M. Vermeulen, M. A. A. van Walderveen, E. Alexiou, C. H. Lucas, M. Fiorelli, Y. N. Debbink, R. Gil, S. Congia, T. Banerjee, J. M. Bouchard, A. N. Pinto, A. Ceballos-Baumann, G. Grollier, P. I. M. Schmitz, M. D. Catata, N. Lahat, N. S. Rao, P. Papathanasopoulos, J. Valls-Solé, D. Claus, G. Schroter, A. Castro, C. Videbaek, R. Martinez Dreke, A. D. Platts, M. Hermesl, A. C. PeÇanha-Martins, M. Cardoso Silva, P. Masnou, M. J. A. Tanner, Ch. Confavreux, B. Mishu, H. Rasmussen, L. Valenciano, Carlo Pozzilli, S. W. Li, V. Salzman, Y. Vashtang, Massimo Franceschi, M. Severo, G. Deuschl, S. Setien, G. Mariani, A. Protti, J. Castillo, M. J. B. Taphoorn, M. Frontali, I. Milonas, D. Decoq, J. A. Navarro, S. Castellvi-Pel, C. Ertikin, M. Urtasun, Y. Lajat, B. E. Kendall, E. Verdu, B. Gueguen, E. Boisen, R. Couderc, A Danek, JM Stevens, F. Nicoli, L. Feltri, M. L. Vazquez-Andre, J. A. Morgan-Hughes, L. D'Angelo, F. Y. Liew, L. F. Pascual, J. Patrignani Ochoa, Vittorio Martinelli, J. Cophignon, L. Zhang, S. Martin, J. F. Meder, H. C. Buschmann, L. Bertin, J. van Gijn, A. Barreiro, A. Cools, C. Leon, A. Berod, E. A. Anllo, E. Zanette, L. Petrov, R. Barona, B. Gallicchio, P. J. Cozzone, N. Diederich, G. Cancel, L. Schelosky, P. Orizaola, K. Yulug, S. Ozer, Valeria A. Sansone, B. Guiraud-Chaumeil, K. Voigt, P. Labauge, M. Eoli, J. Zhu, J. Aguirre, M. Ferrarini, B. Zyluk, E. Planas, A. Cadilha, C. Tortorella, H. Bismuth, C. E. Counsell, A. Laun, A. Ferlini, Rio J. Montalban, N. Biary, L. Becker, M. Fardeau, M. Poloni, V. M. S. de Bruin, C. Fornada, J. Barros, E. Ganzmann, E. Touze, D. Wallach, J. Peila, H. Fujimura, M. T. Iba-Zizen, G. Macchi, C. Villoslada, R. Gouider, Ph. Rondepierre, P. Grummich, P. Chiodi, C. Conte, M. Michels, P. Annunziata, G. Semana, C. Sommer, J. Vajsar, D. Zekin, J. Kulisevsky, David G. Munoz, B. Jacotot, M. Magoni, A. Luxen, T. Garcia-Silva, S. Di Cesare, Christophe Tzourio, M. Gomori, I. Picomell, L. Santoro, F. Villa, Giovanni Pennisi, T. Ribalta, J. M. Molto, L. Marzorati, P. Loiseau, F. Gemignani, A. Gironell, J. Wissel, A. Prusinski, F. Cailloux, P. Villanueva-Hemandez, P. Cozzone, T. Del Ser, J. Sans-Sabrafen, M. Zappia, P. W. A. Willems, G. Tchernia, D. Gardeur, R. Bauer, F. Palomo, H. Metz, S. Lamoureux, C. Chastang, I. Reinhard, A. Goldfarb, S. Harder, Jordi Río, C. Ozkara, E. Tekinsoy, P. Vontobell, J. De Recondo, M. Rabasa, L. Lacomblez, F. Boon, Dgt Thomas, V. Palma, Renato Mantegazza, A. Dervis, M. Nueckel, B. YalÇinerner, I. Duran, G. Dalla Volta, A. Zubimendi, J. Pinheiro, A. Marbini, Xavier Montalban, H. Wekerle, X. Pereira Monteino, F. Crespo, F. Koskas, N. Battistini, C. Ruiz, H. Offner, J. de Pommery, P. Kanovsky, J. Y. Barnett, J. Pardo, G. Tomei, R. Rene, H. M. Lokhorst, P. Thajeb, H. Bilgin, D. McGehee, R. Fahsold, L. Morgante, Katie Sidle, C. Delwaide, M. N. Diaye, P. H. Rice, A. Creange, C. Sabev, K. Stephan, K. WeilBenborn, G. Magnani, L. Grymonprez, F. Cardellach, M. Kaps, N. G. Meco, F. Vega, V. Bonifati, A. Desomer, M. Baldy-Moulinier, G. Kvale, F. J. Authier, B. Yegen, T. Ho, J. M. Rozet, E. A. Cabanis, L. Bruce, L. Ambrosoli, M. A. Petrella, M. Hernandez, P. Timmings, H. B. van der Worp, F. Mahieux, A. Urbano-Marquez, D. A. Krendel, A. A. Garcia, R. Divari, R. Michalowicz, M. R. Piedmonte, M. Bondavalli, M. Zanca, P. F. Ippel, Onofre Combarros, B. Tavitian, E. Hirsch, I. Anastasopoulos, A. Roses, A. Köhler, P. Vienna, V. Timmerman, P. Sergi, F. Cornelio, A. Di Pasquale, R. Verleger, S. Castellvirel, J. Proano, B. van Moll, F. Rubio, W. Hacke, I. Lavenu, L. Zetta, M. W. Tas, N. Bittmann, M. Bonamini, O. R. Hommes, V. Dousset, N. Afsar, S. Belal, R. R. Myers, J. Goes, Giuseppe Vita, E. Clementi, V. G. Karepov, M. Jueptner, A Vincent, P. Emmrich, Th. Heb, A. Caballo, J. Gallego, T. Mokrusch, C. Perla, L. Gebuhrer, O. Titlbach, Alessandro Prelle, A. Czlonkowska, M. Russo, D. Hadjiev, T. S. Chkhikvishvili, M. Oehlschlager, G. Becker, I. Günther, E. N. Stenager, J. Garcia Agundez, J. Casademont, J. Batlle, S. Podobnik-Sarkanji, C. Alonso-Villaverde, B. Delaguillaume, B. Genc, B. Mazoyer, A. Rodriguez-Al-barino, Ch. Hilger, B. Ferrero, R. Price, W. Grisold, L. Fuhry, D. Oulbani, D. Ewing, A. Petkov, W. Walther, A. Gokyigit, John Newsom-Davis, J. Tayot, D. Seliak, G. Pelliccioni, D. Campagne, K. Kessler, F. Boureau, D. Perani, J. P. N'Guyen, N. Tchalucova, B. A. Antin-Ozerkis, C. Lacroix, B. D. Aronovich, I. H. Jenkins, E. A. dos Reis, M. Hortells, H. M. Meinck, H. Ch. Buschmann, S. C. J. M. Jacobs, T. Wetter, P. Creissard, N. Martinez, J. Weidenfeldl, H. J. Sturenburg, G. Damlacik, V. Gracia, J. C. Turpin, A. Pou-Serradell, J. P. Vincent, T. Gagoshidze, U. Ozkutlu, M. McLeod, K. Siegfried, I. Tchaoussoglou, J. Hildebrand, S. Kowalska, M. C. Picot, G. Galardin, L. Crevits, F. Andreetta, S. Larumbe-Lobalde, G. de la Sierra, J. C. Alvarez-Cermeno, R. J. Seitz, P. L. Oey, L. Ptacek, A. M. J. Paans, A. Wirrwar, A. Schmied, J. Uilchez, H. Tounsi, D. Hipola, V. Avoledo, Y. Hirata, P. Vermersch, T. M. Aisonobe, J. Valls-SoIè, H. Staunton, J. Dichgans, R. Karabudak, I. Dones, G. Porta, E. Janssens, Maria Martinez, J. M. Fernandez-Real, R. Villagra, Y. Yoshino, C. Kabus, K. Schimrigk, I. Girard-Buttaz, F. Piccoli, F. Aichner, P. Zuchegna, S. M. Al Deeb, F. Bono, N. Busquets, A. Jobert, Patrizia Ciscato, M. Martin, L. Polman, S. Darbra, V. Le Cam-Duchez, F. Baldissera, B. Baykan-Kurt, D. Guez, M. Bratoeva, H. Matsui, M. Mila, H. Perron, L. Bjorge, G. Husby, Steven T. DeKosky, D. R. Cornblath, J. M. Gabriel, J. J. Poza, Y. Wu, A. Toscano, R. P. Kleyweg, J. Kuhnen, S. O. Confort-Gouny, A. Barcelo, A. M. Conti, C. Fiol, C. Steichen-Wiehn, J. Rodes, M. Cavenaile, C. Vedeler, M. Drlicek, C. Argentino, M. L. Peris, A. Cervello, A. Z. GinaÏ, S. Yancheva, D. Passingham, S. Aoba, D. L. Lopez, T. Rechlin, K. Sonka, L. Grazzi, V. Folnegovic-Smalc, Maurizio Moggio, S. Rivaud, F. G. I. Jennekens, C. H. Hartard, H. Meierkord, G. Stocklin, M. D. Catala, W. C. McKay, E. Salmon, C. Navarro, I. Pastor, L. Canafoglia, M. De Braekeleer, P. K. Thomas, C. Mocellini, C. Pierre-Jerome, M. C. Dalakas, P. Pollak, M. Levivier, Niall Quinn, G. E. Rivolta, Z. Tunca, H. Zeumer, J. Garcia Tena, St. Guily, P. Gaudray, Johannes Kornhuber, V. Petrunjashev, R. Montesanti, R. J. Abbott, H. Petit, G. Kiteva-Trencevska, F. Carletto, C. Ramo, I. M. Pino, P. Beau, G. F. Mennuni, F. Moschian, F. Meneghini, B. Zdziarska, B. Fontaine, C. Stephens, G. Meco, K. Reiners, G. Badlan, M. Sessa, I. Degaey, S. M. Hassan, C. Albani, F. Caroeller, M. Schroeder, G. Savettieri, A. Novelletto, R. Kurita, P. Oschmann, I. Plaza, M. Oliveres, Simone Spuler, A. Molins, M. Schwab, J. R. Kalden, C. P. Gennaula, Y. Baklan, O. Picard, J. M. Léger, B. Mokri, E. Ghidoni, M. Jacob, D. Deplanque, W. JÄnisch, C. 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Katiane EmbiruÇu, E. M. Wicklein, K. Willmes, L. Hanoglu, J. F. Pellissier, Yves Agid, E. Cuadrado, S. Brock, D. Maimone, Z. G. Nadareishvili, E. Matta, S. Hilmi, V. Assuerus, F. Lomena, R. Springer, F. Cabrera-Valdivia, Oscar L. Lopez, M. Casazza, F. Vivancos, Ralf Gold, T. Crawford, B. Moulard, M. Poisson, W. l. McDonald, D. E. Grobbe, Alan Connelly, H. Ozcan, S. Abeta, H. Severo Ochoa, A. C. van Loenen, E. Libson, M. J. Marti, B. George, C. Ferrarese, B. Jacobs, L. Divano, T. Ben-Hur, A. L. Bootsma, V. Martinez, A. Conti, R. P. Maguire, B. Schmidt, D. M. Campos, D. A. Guzman, E. Meary, C. Richart, P. B. Christensen, T. Schroeder, Massimo Zeviani, K. Jensen, R. Aliaga, S. Seitz-Dertinger, J. W. Griffin, C. Fryze, H. Baas, S. Braun, A. M. Porrini, B. Yemez, M. J. Sedano, C. Creisson, A. Del Santo, A. Mainz, R. Kay, S. Livraghi, R. de Waal, D. Macgregor, H. Hefter, R. Garghentino, U. Ruotsalainen, M. Matsumoto, M. G. Beaudry, P. M. Morrison, J. C. Petit, C. Walon, Ph. Chemouilli, F. Henderson, R. Massa, A. Cruz Martinez, U. Liska, F. Hecht, Ernst Holler, V. S. de Bruin, B. B. Sheitman, S. M. Bentzen, C. Bayindir, F. Pallesta, P. E. Roland, J. Parrilla, P. Zunker, L. F. Burchinskaya, G. Mellino, S. Ben Ayed, D. Bonneau, P. Nowacki, M. Goncalves, P. Riederer, N. Mavroudakis, J. Togores, L. Rozewicz, S. Robeck, Y. Perez Gilabert, L. Rampello, A. Rogopoulos, S. Martinez, F. Schildermans, C. Radder, P. B. Hedlund, J. Cambier, M. Aabed, G. D. Jackson, P. Gasparini, P. Santacruz, J. Vandevivere, H. Dural, A. Mantel, W. Dorndorf, N. Ediboglu, A. Lofgren, J. Bogousslavsky, P. Thierauf, L. Goullard, R. Maserati, B. Moering, M. Ryba, J. Serra, G. G. Govan, A. Pascual-Leone, S. Schaeffer, M. R. Rosenfeld, A. P. Correia, K. Ray Chaudhuri, L. Campbell, R. Spreafico, B. Genetet, A. M. Tantot, R. A. G. Hughes, J. A. Vidal, G. Erkol, J. Y. Delattre, B. Yaqub, B. K. Hecht, E. Mayayo, Ph. Scheltens, J. Corral, M. Calaf, L. Henderson, C. Y. Li, U. Bogdahn, R. Sanchez-Roy, M. Navasa, J. Ballabriga, G. Broggi, T. Gudeva, C. Rose, J. Vion-Dury, J. A. Gastaut, J. Pniewski, Nicola J. Robertson, G. Kohncke, M. Billot, S. Gok, E. Castellli, F. Denktas, P. Bazzi, F. Spinelli, I. F. Moseley, C. D. Mardsen, B. Barbiroli, O. M. Koriech, A. Miller, Hiroaki Yoshikawa, F. X. Borruat, J. Zielasek, P. Le Coz, J. Pascual, A. Drouet, L. T. Giron, F. Schondube, R. Midgard, M. Alizadeh, M. Liguori, Lionel Ginsberg, L. Harms, C. Tilgner, G. Tognoni, F. Molteni, Mar Tintoré, M. Psylla, C. Goulon-Goeau, M. V. Aguilar, Massimo Filippi, K. H. Mauritz, Thomas V. Fernandez, C. Basset, S. Rossi, P. Meneses, B. Jandolo, T. Locatelli, D. Shechtcr, C. Magnani, R. Ferri, Bruno Dubois, J. M. Warier, S. Berges, F. Idiman, M. Schabet, R. R. Diehl, P. D'aurelio, M. Musior, Reinhard Hohlfeld, P. Smeyers, M. Olivé, A. Riva, C. A. Broere, N. Egund, S. Franceschetti, V. Bonavita, Nicola Canal, E. Timmermans, M. Ruiz, S. Barrandon, G. Vasilaski, B. Deweer, L. Galiano, S. F. T. M. de Bruijn, L. Masana, A. Goossens, B. Heye, K. Lauer, Heinz Gregor Wieser, Stephen R. Williams, B. Garavaglia, A. P. Sempere, F. Grigoletto, P. Poindron, R. Lopez-Pajares, I. Leite, T. A. McNell, C. Caucheteur, J. M. Giron, A. D. Collins, P. Freger, J. Sanhez Del Rio, D. A. Harn, K. Lindner, S. S. Scherer, G. Serve, M. Juncadella, X. Estivill, R. Binkhorst, M. Anderson, B. Tekinsoy, C. Sagan, T. Anastopoulos, G. Japaridze, S. Guillou, F. Erminio, Jon Sussman, P. G. Oomes, D. S. Rust, S. Mascheroni, O. Berger, M. Peresson, K. V. Toyka, T. W. Polder, M. Huberman, B. Arpaci, H. Ramtami, I. Martinez, Ph. Violon, P. P. Gazzaniga Pozzill, R. Ruda, P. Auzou, J. Parker, S. P. Morrissey, Jiahong Zhu, F. Rotondi, P. Baron, W. Schmid, P. Doneda, M. Spadaro, M. C. Nargeot, I. Banchs, J.S.P. van den Berg, R. Ferrai, M. Robotti, M. Fredj, Pedro M. Rodríguez Cruz, B. Erne, D. G. Piepgras, M. C. Arne-Bes, J. Escudero, C. Goetz, A. R. Naylor, M. Hallett, O. Abramsky, E. Bonifacio, L. E. Larsson, R. Pellikka, P. Valalentino, D. Guidetti, B. Buchwald, C. H. Lücking, D. Gauvreau, F. Pfaff, A. Ben Younes-Chennoufi, R. Kiefer, R. Massot, K. A. Hossmann, L. Werdelin, P. J. Baxter, U. Ziflo, S. Allaria, C. D. Marsden, M. Cabaret, S. P. Mueller, E. Calabrese, R. Colao, S. I. Bekkelund, M. Yilmaz, O. Oktem-Tanor, R. Gine, M. E. Scheulen, J. Beuuer, A. Melo, Z. Gulay, M. D. Have, C. Frith, D. Liberati, J. Gozlan, P. Rondot, Ch. Brunholzl, M. Pocchiari, J. Pena, L. Moiola, C. Salvadori, A. Cabello, T. Catarci, S. Webb, C. Dettmers, N. A. Gregson, Alexandra Durr, F. Iglesias, U. Knorr, L. Ferrini-Strambi, F. Kruggel, P. Allard, A. Coquerel, P. Genet, F. Vinuels, C. Oberwittler, A. Torbicki, P. Leffers, B. Renault, B. Fauser, C. Ciano, G. Uziel, J. M. Gibson, F. Anaya, C. Derouesné, C. N. Anagnostou, M. Kaido, W. Eickhoff, G. Talerico, M. L. Berthier, A. Capdevila, M. Alons, D. Rezek, E. Wondrusch, U. Kauerz, D. Mateo, M. A. Chornet, Holon, N. Pinsard, I. Doganer, E. Paoino, H. Strenge, C. Diaz, J. R. Brasic, W. Heide, I. Santilli, W. M. Korn, D. Selcuki, M. J. Barrett, D. Krieger, T. Leon, T. Houallah, M. Tournilhac, C. Nos, D. Chavot, F. Barbieri, F. J. Jimenez-Jimenez, J. Muruzabal, K. Poeck, A. Sennlaub, L. M. Iriarte, L. G. Lazzarino, C. Sanz, P. A. Fischer, S. D. Shorvon, R. Hoermann, F. Delecluse, M. Krams, O. Corabianu, F. H. Hochberg, Christopher J. Mathias, B. Debachy, C. M. Poser, L. Delodovici, A. Jimenez-Escrig, F. Baruzzi, F. Godenberg, D. Cucinotta, P. J. Garcia Ruiz, K. Maier-Hauff, P. R. Bar, R. Mezt, R. Jochens, S. Karakaneva, C. Roberti, E. Caballero, Joseph E. Parisi, M. Zamboni, T. Lacasa, B. Baklan, J. C. Gautier, J. A. Martinez-Matos, W. Pollmann, G. Thomas, L. Verze, E. Chleide, R. Alvarez Sala, I. Noel, E. Albuisson, O. Kastrup, S. I. Rapoport, H. J. Braune, H. Lörler, M. Le Merrer, A. Biraben, S. Soler, S. J. Taagholt, U. Meyding-Lamadé, K. Bleasdale-Barr, Isabella Moroni, Y. Campos, J. Matias-Guiu, G. Edan, M. G. Bousser, John B. Clark, J. Garcia de Yebenes, N. K. Olsen, P. Hitzenberger, S. Einius, Aj Thompson, Ch. J. Vecht, T. Crepin-Leblond, Klaus L. Leenders, A. Di Muzio, L. Georgieva, René Spiegel, K. Sabey, D. Ménégalli, J. Meulstee, U. Liszka, P. Giral, C. Sunol, J. M. Espadaler, A. D. Crockar, K. Varli, G. Giraud, P. J. Hülser, A. Benazzouz, A. Reggio, M. Salvatore, K. Genc, M. Kushnir, S. Barbieri, J. Ph. Azulay, M. Gianelli, N. Bathien, A. AlMemar, F. Hentati, I. Ragueneau, F. Chiarotti, R. C. F. Smits, A. K. Asbury, F. Lacruz, B. Muller, Alan J. Thompson, Gordon Smith, K. Schmidt, C. Daems Monpeun, Juergen Weber, A. Arboix, G. R. Fink, A. M. Cobo, M. Ait Kaci Ahmed, E. Gencheva, Israel-Biet, G. Schlaug, P. De Jonghe, Philip Scheltens, K. Toyka, P. Gonzalez-Porque, A. Cila, J. M. Fernandez, P. Augustin, J. Siclia, S. Medaglini, D. E. Ziogas, A. Feve, L. Kater, G. J. E. Rinkel, D. Leppert, Rüdiger J. Seitz, S. Ried, C. Turc-Carel, G. Smeyers, F. Godinho, M. Czygan, M. Rijntjes, E. Aversa, M. Frigo, Leif Østergaard, J. L. Munoz Blanco, A. Cruz-Matinez, J. De Reuck, C. Theillet, T. Barroso, V. Oikonen, Florence Lebert, M. Kilinc, C. Cordon-Cardon, G. Stoll, E. Thiery, F. Pulcinelli, J. Solski, M. Schmiegelow, L. J. Polman, P. Fernandez-Calle, C. Wikkelso, M. Ben Hamida, M. Laska, E. Kott, W. Sulkowski, C. Lucas, N. M. Bornstein, D. Schmitz, M. W. Lammers, A. de Louw, R. J. S. Wise, P. A. van Darn, C. Antozzi, P. Villanueva, P. H. E. Hilkens, C. Constantin, W. Ricart, A. Wolf, M. Gamba, P. Maguire, Alessandro Padovani, B. M. Patten, Marie Sarazin, H. Ackermann, L. Durelli, S. Timsit, Sebastian Jander, B. W. Scheithauer, G. Demir, J. P. Neau, P. Barbanti, A. Brand, N. AraÇ, V. Fischer-Gagnepain, R. Marchioli, G. Serratrice, C. Maugard-Louboutin, G. T. Spencer, D. Lücke, G. Mainardi, K. Harmant Van Rijckevorsel, G. B. Creel, R. Manzanares, Francesco Fortunato, A. May, J. Workman, K. Johkura, E. Fernandez, Carlo Colosimo, L. Calliauw, L. Bet, Félix F. Cruz-Sánchez, M. Dhib, H. Meinardi, F. Carrara, J. Kuehnen, C. Peiro, H. Lassmann, K. Skovgaard Olsen, A. McDonald, L. Sciulli, A. Cobo, A. Monticelli, B. Conrad, J. Bagunya, J. Benitez, V. Desnizza, B. Dupont, O. Delrieu, D. Moraes, J. J. Heimans, F. Garcia Rio, M. Matsumto, A. Fernandez, R. Nermni, R. Chalmers, M. J. Marchau, F. Aguado, P. Velupillai, P. J. Martin, P. Tassan, V. Demarin, A. Engelien, T. Gerriets, Comar, J. L. Carrasco, J. P. Pruvo, A. Lopez de Munain, D. Pavitt, J. Alarcon, Chris H. Polman, B. Guldin, N. Yeni, Hartmut Brückmann, N. Wilczak, H. Szwed, R. Causaran, G. Kyriazis, M. E. Westarp, M. Gasparini, N. Pecora, J. M. Roda, E. Lang, V. Scaioli, David R. Fish, D. Caputo, O. Gratzl, R. Mercelis, A. Perretti, G. Steimetz, I. Link, C. Rigoletto, A. Catafau, G. Lucotte, M. Buti, G. Fagiolari, A. Piqueras, C. Godinot, J. C. Meurice, Erodriguez J. Dominigo, F. Lionnet, H. Grzelec, David J. Brooks, P. M. G. Munro, F. X. Weilbach, M. Maiwald, W. Split, B. Widjaja-Cramer, V. Ozturk, J. Colas, E. Brizioli, J. Calleja, L. Publio, M. Desi, R. Soffietti, P. Cortinovis-Tourniaire, E. F. Gonano, G. Cavaletti, S. Uselli, K. Westerlind, H. Betuel, C. O. Dhiver, H. Guggenheim, M. Hamon, R. Fazio, P. Lehikoinen, A. Esser, B. Sadzot, G. Fink, Angelo Antonini, D. Bendahan, V. Di Carlo, G. Galardi, A. F. Boller, M. Aksenova, Del Fiore, V. de la Sayette, H. Chabriat, A. Nicoletti, A. Dilouya, M. L. Harpin, E. Rouillet, J. Stam, A. Wolters, M. R. Delgado, Eduardo Tolosa, G. Said, A. J. Lees, L. Rinaldi, A. Schulze-Bonhage, MA Ron, C. Lefebvre, E. W. Radü, R. Alvarez, M. L. Bots, P. Reganati, S. Palazzi, A. Poggi, N. J. Scolding, V. Sazdovitch, T. Moreau, E. Maes, M. A. Estelies, P. Petkova, Jose-Felix Marti-Masso, G De La Meilleure, N. Mullatti, M. Rodegher, N. C. Notermans, T. A. T. Warner, S. Aktan, J. P. Louboutin, L. Volpe, C. Scheidt, W. Aust, C. M. Wiles, U. Schneider, S. K. Braekken, W. R. Willems, K. Usuku, Peter M. Rothwell, C. Talamon, M. L. Sacchetti, A. Codina, M. H. Marion, A. Santoro, J. Roda, A. Bordoni, D. J. Taylor, S. Ertas, H. H. Emmen, J. Vichez, V. BesanÇon, R. E. Passingham, M. L. Malosio, A. Vérier, M. Bamberg, A. W. Hansen, E. Mostacero, G. Gaudriault, Marie Vidailhet, B. Birebent, K. Strijckmans, F. Giannini, T. Kammer, I. Araujo, J. Nowicki, E. Nikolov, A. Hutzelmann, R. Gherardi, J. Verroust, L. Austoni, A. Scheller, A. Vazquez, S. Matheron, H. Holthausen, J. M. Gerard, M. Bataillard, S. Dethy, V. H. Patterson, V. Ivanez, N. P. Hirsch, F. Ozer, M. Sutter, C. Jacomet, M. Mora, Bruno Colombo, A. Sarropoulos, T. H. Papapetropoulos, M. Schwarz, D. S. Dinner, N. Acarin, B. Iandolo, J. O. Riis, P. R. J. Barnes, F. Taroni, J. Kazenwadel, L. Torre, A. Lugaresi, I. L. Henriques, S. Pauli, S. Alfonso, Pedro Quesada, A. S. T. Planting, J. M. Castilla, Thomas Gasser, M. Van der Linden, A. Alfaro, E. Nobile-Orazio, G. Popova, W. Vaalburg, F. G. A. van der Mech, L. Williams, F. Medina, J. P. Vernant, J. Yaouanq, B. Storch-Hagenlocher, A. Potemkowski, R. Riva, M. H. Mahagne, M. Ozturk, Ve. Drory, N. Konic, C. Jungreis, A. Pou Serradell, J. L. Gauvrit, G. J. Chelune, S. Hermandez, T. Dingus, L. Hewer, Ch. Koch, M. N. Metz-Lutz, G. Parlato, M. Sinaki, Charles Pierrot-Deseilligny, H. C. Diener, J. Broeckx, J. Weill-Fulazza, M. L. Villar, M. Rizzo, O. Ganslandt, C. Duran, N. A. Fletcher, G. Di Giovacchino, Susan T. Iannaccone, C. Kolig, N. Fabre, H. A. Crockard, Rita Bella, M. Tazir, E. Papagiannuli, K. Overgaard, Emma Ciafaloni, I. Lorenzetti, F. Viader, P. A. H. Millac, I. Montiel, L. H. Visser, M. Palomar, P. L. Murgia, H. Pedersen, Rafael Blesa, S. Seddigh, W. O. Renier, I. Lemahieu, H. M. L. Jansen, L. Rosin, J. Galofre, K. Mattos, M. Pondal, G. M. Hadjigeorgiou, D. Francis, L. Cantin, D. Stegeman, M. Rango, A. B. M. F. Karim, S. Schraff, B. Castellotti, I. Iriarte, E. Laborde, T. J. Tjan, R. Mutani, D. Toni, B. Bergaasco, J. G. Young, C. Klotzsch, A. Zincone, X. Ducrocq, M. Uchuya, O. J. Kolar, A. Quattrone, T. Bauermann, Nereo Bresolin, J. Vallée, B. C. Jacobs, A. Campos, Werner Poewe, J. A. Villanueva, A. W. Kornhuber, A. Malafosse, E. Diez-Tejedor, G. Jungreia, M. J. A. Puchner, A. Komiyama, O. Saribas, V. Volpini, L. Geremia, S. Bressi, A. Nibbio, Timothy E. Bates, T. z. Tzonev, E. Ideman, G. A. Damlacik, G. Martino, G. Crepaldi, T. Martino, Kjell Någren, E. Idiman, D. Samuel, J. M. Perez Trullen, Y. van der Graaf, J. O. Thorell, M. J. M. Dupuis, E. Sieber, R. D'Alessandro, C. Cazzaniga, J. Faiss, A. Tanguy, A. Schick, I. Hoksergen, A. Cardozo, R. Shakarishvili, G. K. Wennlng, J. L. Marti-Vilalta, J. Weissenbach, I. L. Simone, Amalia C. Bruni, Darius J. Adams, C. Weiller, A. Pietrangeli, F. Croria, C. Vigo-Pelfrey, Patricia Limousin, A. Ducros, G. Conti, O. Lindvall, E. Richter, M. Zuffi, A. Nappo, T. Riise, J. Wijdenes, M. J. Fernandez, J. Rosell, P. Vermersh, S. Servidei, M. S. C. Verdugo, F. Gouttiere, W. Solbach, M. Malbezin, I. S. Watanabe, A. Tumac, W. I. McDonald, D. A. Butterfield, P. P. Costa, F. deRino, F. Bamonti, J. M. Cesar, C. H. Lahoz, I. Mosely, M. Starck, M. H. Lemaitre, K. M. Stephan, S. Tex, R. Bokonjic, I. Mollee, L. Pastena, M. Gutierrez, F. Boiler, M. C. Martinez-Para, M. Velicogna, O. Obuz, A. Grinspan, M. Guarino, L. M. Cartier, E. Ruiz, D. Gambi, S. Messina, M. Villa, Michael G. Hanna, J. Valk, Leone Pascual, M. Clanet, Z. Argov, B. Ryniewicz, E. Magni, B. Berlanga, K. S. Wong, C. Gellera, C. Prevost, F. Gonzalez-Huix, R. Petraroli, J. E. G. Benedikz, I. Kojder, C. Bommelaer, L. Perusse, M. R. Bangioanni, Guy M. McKhann, A. Molina, C. Fresquet, E. Sindern, Florence Pasquier, M. J. Rosas, M. Altieri, O. Simoncini, M. Koutroumanidis, C. A. F. Tulleken, M. Dary-Auriol, S. Oueslati, H. Kruyer, I. Nishisho, C. R. Horning, A. Vital, G. V. Czettritz, J. Ph. Neau, B. Mihout, A. Ameri, M. Francis, S. Quasthoff, D. Taussig, S. Blunt, P. Valentin, C. Y. Gao, O. Heinzlef, H. d'Allens, C. Coudero, M. Erfas, G. Borghero, P. J. Modrego Pardo, M. C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg
Subjects: Neurology, business.industry, Media studies, Library science, Medicine, Neurology (clinical), business
Published: 1994
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4. Porphyric neuropathy and hereditary δ-aminolevulinic acid dehydratase deficiency in an adult

Author: A. Hassoun, Jean-Jacques Martin, Robrecht De Bock, Luc Verstraeten, and R. Mercelis
Subjects: Male, medicine.medical_specialty, Pathogenesis, Porphyrias, chemistry.chemical_compound, Internal medicine, Porphobilinogen, medicine, Humans, Motor Neurons, chemistry.chemical_classification, biology, Porphobilinogen synthase, Genetic Diseases, Inborn, Porphobilinogen Synthase, Neuromuscular Diseases, δ-aminolevulinic acid, Middle Aged, medicine.disease, Enzyme, Endocrinology, Porphyria, Neurology, chemistry, Dehydratase, biology.protein, Neurology (clinical), Polyneuropathy
Abstract: A man without a history of porphyric attacks developed a subacute motor neuropathy at the age of 63. At the same time the first signs of a myeloproliferative disorder were found. He had a homozygous deficiency of erythrocyte δ-aminolevulinic acid dehydratase (ALA-D) with autosomal recessive inheritance. Treatment with parenteral glucose and with hematin had a beneficial influence on the plasma ALA levels. The finding of a motor neuropathy with increased plasma levels of ALA but not of porphobilinogen (PBG) supports the potential role of ALA in the pathogenesis of porphyric neuropathy.
Published: 1990
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5. P340: Concentric needle versus single fiber needle stimulated single fiber electromyography in orbicularis oculi: comparison of results in consecutive patient cohorts

Author: R. Mercelis and K. Wouters
Subjects: Neurology, business.industry, Physiology (medical), Single fiber, Medicine, Neurology (clinical), Concentric, business, Sensory Systems, Biomedical engineering, Single fiber electromyography
Published: 2014
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6. Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria

Author: R, Akagi, C, Nishitani, H, Harigae, Y, Horie, L, Garbaczewski, A, Hassoun, R, Mercelis, L, Verstraeten, and S, Sassa
Subjects: Family Health, Male, Heterozygote, DNA, Complementary, Genotype, Mutation, Missense, Porphobilinogen Synthase, Sequence Analysis, DNA, Middle Aged, Porphyrias, Humans, Point Mutation, Female, Age of Onset, Alleles
Abstract: Cloning, expression, and genotype studies of the defective gene for delta-aminolevulinate dehydratase (ALAD) in a patient with an unusual late onset of ALAD deficiency porphyria (ADP) were carried out. This patient was unique in that he developed the inherited disease, together with polycythemia, at the age of 63. ALAD activity in erythrocytes of the patient was less than 1% of the normal control level. ALAD complementary DNA (cDNA) isolated from the patient's Epstein-Barr virus (EBV)-transformed lymphoblastoid cells had 2 base transitions in the same allele, G(177) to C and G(397) to A, resulting in amino acid substitutions K59N and G133R, respectively. It has been verified that the patient had no other ALAD mutations in this and in the other allele. By restriction fragment length polymorphism (RFLP) analysis, all family members of the proband who had one-half ALAD activity compared with the ALAD activity of the healthy control were shown to have the same set of base transitions. Expression of ALAD cDNA in CHO cells revealed that K59N cDNA produced a protein with normal ALAD activity, while G133R and K59N/G133R cDNA produced proteins with 8% and 16% ALAD activity, respectively, compared with that expressed by the wild type cDNA. These findings indicate that while the proband was heterozygous for ALAD deficiency, the G(397) to A transition resulting in the G133R substitution is responsible for ADP, and the clinical porphyria developed presumably due to an expansion of the polycythemic clone in erythrocytes that carried the mutant alad allele.
Published: 2000

7. Value of somatosensory and motor evoked potentials in predicting arm recovery after a stroke

Author: R Mercelis, Hilde Feys, J Van Hees, W De Weerdt, and Frans Bruyninckx
Subjects: medicine.medical_specialty, Physical examination, Electroencephalography, Muscle tone, Predictive Value of Tests, Evoked Potentials, Somatosensory, medicine, Humans, Stroke, Analysis of Variance, medicine.diagnostic_test, medicine.disease, Evoked Potentials, Motor, Psychiatry and Mental health, medicine.anatomical_structure, Somatosensory evoked potential, Predictive value of tests, Papers, Physical therapy, Arm, Upper limb, Surgery, Neurology (clinical), Human medicine, Motor Deficit, Psychology
Abstract: Objectives-Prediction of motor recovery in the arm in patients with stroke is generally based on clinical examination, However, neurophysiological measures may also have a predictive value. The aims of this study were to assess the role of somatosensory (SSEPs) and motor (MEPs) evoked potentials in the prediction of arm motor recovery and to determine whether these measures added further predictive information to that gained from clinical examination. Methods-Sixty four patients who had had a stroke and presented with obvious motor deficit of the arm were examined in terms of three clinical variables (motor performance, muscle tone, and overall disability) and for SSEPs and MEPs. Clinical and neurophysiological examinations were done at entry to the study (2 to 5 weeks poststroke), and at about 2 months after stroke. Further clinical follow up was conducted at 6 and 12 months after stroke. Results-Neurophysiological measures made in the acute phase were of little use alone in predicting motor recovery of the arm at 2, 6, and 12 months after stroke. At 2 months, the absence of SSEPs and MEPs indicated a very poor outcome. Conversely, if the responses were preserved, a great variation in motor outcome was found. Multiple regression analysis showed that the addition of SSEPs and MEPs to the clinical examination increased the possibility of predicting arm recovery in the long term. In the acute phase, the combination of the motor score and SSEPs were best able to predict outcome. The long term outcome based on variables taken at 2 months, was best predicted through incorporating the three clinical measures and MEPs. Conclusions-Neurophysiological measures alone are of limited value in predicting long term outcome. However, predictive accuracy is substantially improved through the combined use of both of these measures and clinical variables.
Published: 2000

8. Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria

Author: Hideo Harigae, Luba Garbaczewski, A. Hassoun, R. Mercelis, Yutaka Horie, Reiko Akagi, Luc Verstraeten, Shigeru Sassa, and Chiaki Nishitani
Subjects: medicine.medical_specialty, Porphobilinogen synthase, Point mutation, Immunology, Wild type, Cell Biology, Hematology, Biology, medicine.disease, Biochemistry, Porphyria, Endocrinology, Internal medicine, Dehydratase, Complementary DNA, Genotype, medicine, biology.protein, Human medicine, Allele
Abstract: Cloning, expression, and genotype studies of the defective gene for delta -aminolevulinate dehydratase (ALAD) in a patient with an unusual late onset of ALAD deficiency porphyria (ADP) were carried out.: This patient was unique in that he developed the inherited disease, together with polycythemia, at the age of 63. ALAD activity in erythrocytes of the patient was less than 1% of the normal control level. ALAD complementary DNA (cDNA) isolated from the patient's Epstein-Barr virus (EBV)-transformed lymphoblastoid cells had 2 base transitions in the same allele, G(177) to C and G(397) fo A, resulting in amino acid substitutions K59N and G133R, respectively. It has been verified that the patient had no other ACAD mutations in this and in the other allele. By restriction fragment length polymorphism (RFLP) analysis, all family members of the proband who had one-half ALAD activity compared with the ALAD activity of the healthy control were shown to have the same set of base transitions. Expression of ALAD cDNA in CHO cells revealed that K59N cDNA produced a protein with normal ALAD activity, while G133R and K59N/G133R cDNA produced proteins with 8% and 16% ALAD activity, respectively, compared with that expressed by the wild type cDNA. These findings indicate that while the proband was heterozygous fbr ALAD deficiency, the G397 to a transition resulting in the G133R substitution is responsible for ADP, and the clinical porphyria developed presumably due to an expansion of the polycythemic clone in erythrocytes that carried the mutant alad allele. (C) 2000 by The American Society of Hematology.
Published: 2000

9. History of Neurology

Author: R Mercelis
Subjects: Pediatrics, medicine.medical_specialty, Neurology, business.industry, medicine, Neurology (clinical), General Medicine, business
Published: 2011
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10. Practical approach to electroencephalography

Author: R Mercelis
Subjects: Cognitive science, Neurology, medicine.diagnostic_test, medicine, Neurology (clinical), General Medicine, Electroencephalography, Psychology, Neuroscience
Published: 2010
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11. Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes

Author: M. Doss, Hiroyoshi Fujita, R. Mercelis, A. Hassoun, Shigeru Sassa, L. Verstraeten, and Attallah Kappas
Subjects: Adult, Male, Erythrocytes, Lymphocyte, Hydroxymethylbilane Synthase, Clinical Biochemistry, Heme, Biology, Biochemistry, Hepatic porphyria, chemistry.chemical_compound, Porphyrias, Porphobilinogen, medicine, Humans, Lymphocytes, Immunoelectrophoresis, Aged, Porphobilinogen synthase, Liver Diseases, Homozygote, Porphobilinogen Synthase, General Medicine, Middle Aged, medicine.disease, Molecular biology, medicine.anatomical_structure, Porphyria, chemistry, Dehydratase, biology.protein, Female
Abstract: Activities of delta-aminolevulinic acid (ALA) dehydratase and porphobilinogen (PBG) deaminase, and haem content were determined in EB-virus transformed lymphocytes from two patients with homozygous ALA dehydratase deficiency, and their family members to determine the expression of the specific gene defect in this cell type. ALA dehydratase activity, but not PBG deaminase activity or haem content, was markedly decreased in lymphocyte preparations from both patients with homozygous enzyme deficiency, and moderately decreased in subjects heterozygous for enzyme deficiency. Immunochemical quantitation of erythrocyte ALA dehydratase suggested the presence of a cross-reactive material in a patient with a late-onset of acute hepatic porphyria due to the homozygous enzyme deficiency.
Published: 1991

12. Heterogeneity of central motor conduction time to upper and lower limbs in patients with motor neuron disease and spasmodic paraplegia

Author: J.J. Martin and R. Mercelis
Subjects: medicine.medical_specialty, business.industry, General Neuroscience, Disease, Motor neuron, medicine.disease, Physical medicine and rehabilitation, medicine.anatomical_structure, medicine, In patient, Neurology (clinical), business, Paraplegia, Conduction time, Clasp-knife response
Published: 1993
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13. Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy

Author: Georges Van den Berghe, Jj. Martin, I. Dehaene, R. Mercelis, and Thierry de Barsy
Subjects: Adult, Pathology, medicine.medical_specialty, Neurology, Biopsy, Facial Paralysis, Physical Exertion, AMP Deaminase, Adenine nucleotide, medicine, Humans, Physiological function, Muscle biopsy, medicine.diagnostic_test, Electromyography, business.industry, Muscles, Limb-girdle myopathy, AMP deaminase, Neuromuscular Diseases, Anatomy, Microscopy, Electron, Muscular Atrophy, Facial Asymmetry, Nucleotide Deaminases, Female, Neurology (clinical), business
Abstract: Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.
Published: 1981
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14. Pathology of peripheral nerves in metachromatic leucodystrophy

Author: Jean-Jacques Martin, R. Mercelis, Chantal Ceuterick, and Claire Joris
Subjects: Diagnostic information, Pathology, medicine.medical_specialty, Arylsulphatase A, Neurology, Peripheral nerve, business.industry, Myelin sheath, Medicine, Neurology (clinical), business, Peripheral, Metachromatic leucodystrophy
Abstract: Results of qualitative and quantitative studies on 1 to 13 peripheral nerves from 10 cases (6 late infantile, 2 juvenile and 2 adult cases) of metachromatic leucodystrophy (MLD) are reported. Peripheral nerve biopsies are still useful despite the arylsulphatase A assays on leucocytes and cultured fibroblasts, since they provide extremely rapid and reliable diagnostic information. The following points are investigated: (1) are there differences in the severity and characteristics of demyelination according to MLD subtypes; (2) are there major differences in various nerves of one patient; (3) are some inclusions characteristic of a given MLD subtype; (4) is there a direct relationship between demyelination and storage of characteristic inclusions? While question 1 can be answered positively, the three following ones must receive a negative or at best an equivocal answer.
Published: 1982
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15. Neurophysiological studies in adrenomyeloneuropathy

Author: J.J. Martin, R. Mercelis, and A. Vercruyssen
Subjects: Pathology, medicine.medical_specialty, biology, Cochlear nerve, Signs and symptoms, Anatomy, Neurophysiology, biology.organism_classification, medicine.anatomical_structure, Neurology, Somatosensory evoked potential, Fasciculus, medicine, Auditory pathways, Neurology (clinical), Psychology, Intrafamilial variability, Sensory nerve
Abstract: Neurophysiological studies were performed in 5 patients in two families suffering from adrenomyeloneuropathy (AMN). The diagnosis was supported by electron microscopy of nerve twigs in all cases and by the demonstration in 2 cases of increased levels of saturated very long chain fatty acids in cultured fibroblasts (Moser, personal communication). Measurements of the sensory-motor conduction velocities demonstrated the variability of the peripheral nerve damage in AMN, further confirmed by quantitative studies of sensory nerve biopsies. Somatosensory evoked potentials (SEP) were abnormally delayed and their configuration was abnormal, mainly following stimuli applied to the lower limbs. Our data suggest a more severe involvement of the fasciculus gracilis and an extension of the lesions to the medial lemnisci in agreement with the few post-mortem reports showing multifocal demyelination. Brain stem auditory evoked potentials (BAEP) were delayed, pointing towards lesions between cochlear nerve and superior olivary nucleus and also at lateral lemniscal level. Morphological confirmation is lacking but the close topographical relationship between the secondary auditory pathways and the medial lemnisci indicates that even small lesions could damage simultaneously both pathways. Neurophysiological studies contribute to the diagnosis of AMN, they confirm the inter- and intrafamilial variability of the clinical features and help to explain the signs and symptoms of this condition.
Published: 1982
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16. Neurogenic scapuloperoneal syndrome in childhood

Author: R Mercelis, J J Martin, and J Demeester
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Electromyography, medicine, Humans, skin and connective tissue diseases, Denervation, Neurogenic scapuloperoneal syndrome, medicine.diagnostic_test, business.industry, Muscles, Peroneal Nerve, Neuromuscular Diseases, Syndrome, Anatomy, Muscle atrophy, Scapula, Muscular Atrophy, Psychiatry and Mental health, Surgery, sense organs, Neurology (clinical), medicine.symptom, business, Research Article
Abstract: Two brothers presented with a slowly progressive scapuloperoneal syndrome starting in early childhood. Initially there were myopathic EMG changes, but these changed to those of denervation. Neuromuscular biopsies at an interval of five years confirmed the neurogenic character of the muscle atrophy.
Published: 1980
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17. Bulbo-spinal lower motor neuron disease. Accumulation of neurofilaments in perikarya and axons

Author: J J, Martin, R, Mercelis, G, Dua, and E, Moens
Subjects: Adult, Male, Motor Neurons, Neurons, Medulla Oblongata, Neuromuscular Diseases, Middle Aged, Axons, Spinal Cord Diseases, Microscopy, Electron, Muscular Atrophy, Anterior Horn Cells, Nerve Degeneration, Humans, Cytoskeleton
Abstract: Two sporadic adult cases of bulbo-spinal lower motor neuron disease are reported. In the first patient, the disease lasted 8 months and was characterized by a bulbar onset followed by a progressive cephalocaudal involvement of the lower motor neurons in the spinal cord. In the second case of 14 months duration, the cervical spinal cord was affected at first while medulla oblongata and lower limbs were involved later on. There was a slight increase of the protein contents in the CSF. Postmortem examination confirmed the selective involvement of the lower motor neurons in medulla oblongata and spinal cord with severe loss at cervico-medullary level in case 1 and more diffuse loss in case 2, in keeping with the clinical signs. Bodian silver staining and electron microscopy showed the accumulation of neurofilaments in anterior born cells' perikarya and in proximal axonal dilatations. The nosology of the disorder and the comparison with lesions found in various types of motor neuron disease in humans and animals are discussed.
Published: 1982

18. Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies

Author: Jean-Jacques Martin, Thierry de Barsy, Georges Van den Berghe, and R. Mercelis
Subjects: myalgia, Adult, Male, Pathology, medicine.medical_specialty, animal structures, Neuromuscular disease, Adolescent, Biopsy, Physical Exertion, AMP Deaminase, Atrophy, Muscular Diseases, medicine, Humans, Myopathy, Child, Aged, Muscle biopsy, medicine.diagnostic_test, business.industry, Histocytochemistry, Muscles, Middle Aged, medicine.disease, Congenital myopathy, Neurology, Nucleotide Deaminases, Female, Neurology (clinical), medicine.symptom, business, Polyneuropathy, Muscle cramp
Abstract: A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal muscular atrophy (n = 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy, polymyositis, myotonic dystrophy and hyperornithinaemia with gyrate atrophy of the retina. In contrast, 35 unrelated patients presenting with exercise-related muscle cramps or pains showed normal histochemical MAD activity. The biopsy specimens in all of these patients were essentially normal and in none of them was the diagnosis of a neuromuscular disease made. The results failed to confirm the association of MAD deficiency with aches, cramps and pains or exertional myalgia.
Published: 1987

19. Nuclear inclusions in oculopharyngeal muscular dystrophy

Author: R. Mercelis, Jean-Jacques Martin, and Chantal Ceuterick
Subjects: Pathology, medicine.medical_specialty, Physiology, business.industry, medicine.disease, Oculopharyngeal muscular dystrophy, Skeletal muscle biopsy, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Neurology (clinical), Human medicine, Muscle fibre, business
Abstract: The ultrastructural study of a skeletal muscle biopsy in a case of familial oculopharyngeal muscular dystrophy confirms the presence of 78 nm wide tubular filaments within muscle fiber nuclei.
Published: 1982

20. Pathology of peripheral nerves in metachromatic leucodystrophy. A comparative study of ten cases

Author: J J, Martin, C, Ceuterick, R, Mercelis, and C, Joris
Subjects: Adult, Male, Microscopy, Infant, Leukodystrophy, Metachromatic, Middle Aged, Nerve Fibers, Myelinated, Axons, Microscopy, Electron, Pregnancy, Child, Preschool, Humans, Female, Peripheral Nerves, Child, Myelin Sheath
Abstract: Results of qualitative and quantitative studies on 1 to 13 peripheral nerves from 10 cases (6 late infantile, 2 juvenile and 2 adult cases) of metachromatic leucodystrophy (MLD) are reported. Peripheral nerve biopsies are still useful despite the arylsulphatase A assays on leucocytes and cultured fibroblasts, since they provide extremely rapid and reliable diagnostic information. The following points are investigated: (1) are there differences in the severity and characteristics of demyelination according to MLD subtypes; (2) are there major differences in various nerves of one patient; (3) are some inclusions characteristic of a given MLD subtype; (4) is there a direct relationship between demyelination and storage of characteristic inclusions? While question 1 can be answered positively, the three following ones must receive a negative or at best an equivocal answer.
Published: 1982

21. Neurophysiological studies in adrenomyeloneuropathy. A report on five cases

Author: A, Vercruyssen, J J, Martin, and R, Mercelis
Subjects: Adult, Motor Neurons, Paraplegia, Biopsy, Hypogonadism, Neural Conduction, Peripheral Nervous System Diseases, Nerve Fibers, Myelinated, Median Nerve, Sural Nerve, Muscle Spasticity, Evoked Potentials, Somatosensory, Evoked Potentials, Auditory, Humans, Adrenal Insufficiency, Brain Stem
Abstract: Neurophysiological studies were performed in 5 patients in two families suffering from adrenomyeloneuropathy (AMN). The diagnosis was supported by electron microscopy of nerve twigs in all cases and by the demonstration in 2 cases of increased levels of saturated very long chain fatty acids in cultured fibroblasts (Moser, personal communication). Measurements of the sensory-motor conduction velocities demonstrated the variability of the peripheral nerve damage in AMN, further confirmed by quantitative studies of sensory nerve biopsies. Somatosensory evoked potentials (SEP) were abnormally delayed and their configuration was abnormal, mainly following stimuli applied to the lower limbs. Our data suggest a more severe involvement of the fasciculus gracilis and an extension of the lesions to the medial lemnisci in agreement with the few postmortem reports showing multifocal demyelination. Brain stem auditory evoked potentials (BAEP) were delayed, pointing towards lesions between cochlear nerve and superior olivary nucleus and also at lateral lemniscal level. Morphological confirmation is lacking but the close topographical relationship between the secondary auditory pathways and the medial lemnisci indicates that even small lesions could damage simultaneously both pathways. Neurophysiological studies contribute to the diagnosis of AMN, they confirm the inter- and intrafamilial variability of the clinical features and help to explain the signs and symptoms of this condition.
Published: 1982

22. Cardiac manifestations of Becker-type muscular dystrophy

Author: C, Vrints, R, Mercelis, E, Vanagt, J, Snoeck, and J J, Martin
Subjects: Adult, Male, Electrocardiography, Heart Diseases, Echocardiography, Phonocardiography, Humans, Female, Muscular Dystrophies
Abstract: The electro-, phonomechano- and echocardiographic manifestations observed in a family with documented X-linked Becker-type muscular dystrophy (BMD) are described. Important myocardial dystrophic lesions may occur in young patients with BMD. They are associated with typical electrocardiological findings which were described as a distinctive pattern in Duchenne-type muscular dystrophy. Myocardial involvement is seldom observed in heterozygotes for BMD.
Published: 1983

23. Electromyography

Author: R, Mercelis
Subjects: Motor Neurons, Electromyography, Muscles, Cranial Nerves, Neural Conduction, Humans, Peripheral Nerves
Published: 1986

24. alpha-D-mannosidases in I-cells [proceedings]

Author: A, Van Elsen, A, Claes, and R, Mercelis
Subjects: Kinetics, Mannosidases, Humans, Fibroblasts, Cells, Cultured, Skin
Published: 1979

25. Familial periodic paralysis with hypokalaemia. Study of a muscle biopsy in the myopathic stage of the disorder

Author: J J, Martin, C, Ceuterick, R, Mercelis, and D, Amrom
Subjects: Male, Microscopy, Electron, Biopsy, Muscles, Vacuoles, Humans, Muscle Hypotonia, Hypokalemia, Middle Aged, Paralyses, Familial Periodic
Abstract: A 51 year-old male patient was affected by a dominantly inherited periodic paralysis. With large potassium supplements and ageing, the number and severity of attacks became considerably reduced. Increasing weakness and atrophy of the lower extremities were documented by clinical examination and by computer-assisted tomography of the muscles. A biopsy was taken in the vastus lateralis muscle without any attempt to induce a hypokalaemic paralytic attack. Light microscopy showed multiple intra- and extracellular vacuoles, rimmed vacuoles, myonecrosis, fatty degeneration and endomysial fibrosis. The endomysial nerve bundles were normal. Both fiber types were vacuolated. Quantitative studies revealed abnormal variability coefficients and increased atrophy factors for all types. Electron microscopy showed dilatations of the tubular system and of the sarcoplasmic reticulum communicating with large vacuoles limited by a single membrane. Other vacuoles were covered by a basement membrane and could contain collagen fibers or capillaries. Accumulation of myeloid bodies and of 10-13 nm filaments were also noted in the sarcoplasm. Cytoplasmic bodies were present. No tubular aggregates could be found. The nerve bundles were normal. These findings were in part similar to the ones reported by Gérard et al. (1978) in the son's biopsy during an induced paralytic attack. Significant findings in our case are the sequence of events leading to muscle fibre destruction, still detectable at an advanced stage of the disease. Myopathic changes represent a delayed but severe complication of the disorder.
Published: 1984

26. Centronuclear myopathy: follow-up study of a case reported as an early onset myopathy (1966): muscle biopsies in parents and sibs

Author: R, Mercelis, J J, Martin, L, Martin, and C, Ceuterick
Subjects: Adult, Cell Nucleus, Male, Muscular Atrophy, Adolescent, Electromyography, Muscles, Humans, Female, Genetic Counseling, Creatine Kinase
Abstract: A 21 year-old boy suffered from a congenital myopathy with predominantly proximal distribution and mild involvement of facial and oculomotor muscles. A third muscle biopsy at age 20 and a reappraisal of two previous biopsies led to the diagnosis of centronuclear myopathy. A review of about one hundred cases in the literature shows that age of onset, mode of inheritance and pathologic features may differ in large proportions. For genetic counselling investigations were performed on the patient's parents, brother and sister. All family members were clinically normal. Electromyography showed short potentials suggestive of myopathy in both parents but much more so in the patient's sister. Biopsies revealed equivocal changes, especially in mother and sister. No definitive conclusions about the mode of inheritance could be drawn in this family.
Published: 1980

27. Scientific Meeting of the Flemish Society of Neurology-Psychiatry held in Aalst, May 9th 1987

Author: M.B. Lenders, P. de Wit, P. Castelein, L. Schuddinck, G. Vanhooren, I. Dehaene, M. van Zandijcke, M. Marchau, J. De Bleecker, J. de Reuck, G. Vingerhoets, E. Thiery, F. van Calenbergh, R. Dom, J. Goffin, C. Plets, R. van den Bergh, J. de Koninck, W. Ceusters, Ph. van Ooteghem, A. Vakaet, G. Claeys, J. Verschraegen, M. van Orshoven, F. van Orshoven, P. Gouban, H. Carton, H. Taelman, E. Druyts-Voets, J. De Smyter, F. Picssesn, B. Meyer, V. van den Bergh, T.U. Hoogenraad, E. Triau, M. Malfroid, F. Baro, R. Mercelis, P. de Jonghe, J. Gheuens, and J.J. Martin
Subjects: medicine.medical_specialty, Flemish, Medical education, Neurology, business.industry, medicine, language, Surgery, Neurology (clinical), General Medicine, business, language.human_language

28. EMG and CT findings after 15 years evolution of infantile spinal muscular atrophy

Author: J.J. Martin and R. Mercelis
Subjects: business.industry, General Neuroscience, Medicine, Neurology (clinical), Anatomy, Ct findings, business, Muscle contracture, Infantile spinal muscular atrophy
Published: 1983
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29. Current management of myasthenia gravis in Belgium: a single-center experience.

Author: Mercelis R, Alonso-Jiménez A, and Van Schil P
Subjects: Humans, Female, Male, Belgium, Pyridostigmine Bromide therapeutic use, Diplopia drug therapy, Myasthenia Gravis diagnosis, Myasthenia Gravis drug therapy, Myasthenia Gravis epidemiology, Blepharoptosis drug therapy
Abstract: Introduction: As new treatments are becoming available for patients with myasthenia gravis (MG), it is worth reflecting on the actual status of MG treatment to determine which patients would most likely benefit from the new treatments., Methods: We reviewed the clinical files of all MG patients seen at the Department of Neurology of the Antwerp University Hospital during the years 2019, 2020 and 2021., Results: 163 patients were included. Age at diagnosis varied from the first to the eighth decades, with a peak of incidence from 60 to 70 years for both genders, and an additional peak from 20 to 30 years in women. Diplopia and ptosis were by far the most common onset symptom. At maximum disease severity, 24% of the patients still had purely ocular symptoms and 4% needed mechanical ventilation. 97% of the patients received a treatment with pyridostigmine and 68% with corticosteroids, often in combination with immunosuppressants. More than half reported side effects. At the latest visit, 50% of the patients were symptom-free. Also, half of the symptomatic patients were fulltime at work or retired with no or mild limitations in daily living. The remaining patients were working part-time, on sick leave, or retired with severe limitations., Discussion and Conclusion: The majority of MG patients are doing well with currently available treatments, but often at the cost of side effects in the short and in the long term. A significant group is in need of better treatments., (© 2023. The Author(s) under exclusive licence to Belgian Neurological Society.)
Published: 2023
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30. Caspr2 autoantibody-associated Morvan syndrome predating thymoma relapse by 30 months.

Author: Masrori P, Vaesen Bentein H, Raskin J, Montagna M, De Picker L, De Volder I, Van Schil PE, Janssens A, and Mercelis R
Subjects: Autoantibodies, Humans, Male, Neoplasm Recurrence, Local, Lung Neoplasms, Thymoma complications, Thymoma diagnosis, Thymus Neoplasms complications, Thymus Neoplasms diagnosis
Abstract: Morvan's syndrome (MoS) is a rare autoimmune disorder characterized by central nervous system involvement, autonomic dysfunction and peripheral nerve hyperexcitability. MoS is believed to be caused by autoantibodies targeting contactin-associated protein 2 (Caspr2), a subunit of the neuronal voltage-gated potassium channel (VGKC) complex, usually in association with thymoma, less commonly with other malignancies. This case highlights an exceptional case of severe sleep disturbances and behavioural changes due to MoS, in a patient who would present with and be treated successfully for a second relapse of thymoma 30 months later. Originally he suffered from ocular myasthenia, another autoimmune disorder, which led to diagnosis of his original thymoma and first relapse., (Copyright © 2021 Elsevier B.V. All rights reserved.)
Published: 2021
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31. Myasthenia gravis appearing after thymectomy heralding recurrent thymoma.

Author: Beckers PAJ, Mercelis R, Heyman S, Verheuen L, Lauwers P, Hendriks JM, and Van Schil PE
Subjects: Aged, Female, Humans, Myasthenia Gravis pathology, Myasthenia Gravis surgery, Neoplasm Recurrence, Local pathology, Neoplasm Recurrence, Local surgery, Positron-Emission Tomography, Postoperative Complications pathology, Postoperative Complications surgery, Reoperation, Thymoma diagnosis, Thymoma pathology, Thymus Gland diagnostic imaging, Thymus Gland pathology, Thymus Neoplasms diagnosis, Thymus Neoplasms pathology, Tomography, X-Ray Computed, Myasthenia Gravis diagnosis, Neoplasm Recurrence, Local diagnosis, Postoperative Complications diagnosis, Thymectomy, Thymoma surgery, Thymus Neoplasms surgery
Abstract: Introduction: Thirty to fifty percent of thymoma patients develop myasthenia gravis (MG). In 1.5-28% of cases, MG appears many years after removal of a thymoma., Patients and Methods: We present a case report of a 72-year-old female who presented with MG four months after total thymectomy., Results: A 72-year-old female patient presents with MG four months after total thymectomy. Imaging revealed a PET-positive nodule anterior to the superior vena cava. By median sternotomy, the nodule was removed at our hospital. Pathology confirmed a recurrent B2/B3 thymoma with R0 resection. No adjuvant therapy was given. Large population studies show the appearance of new-onset MG associated with recurrent thymoma in 3% of cases., Conclusions: New-onset MG postthymectomy heralds recurrent disease in 3% of cases. Thorough screening is needed in such patients.
Published: 2019
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32. The effect of a single botulinum toxin treatment on somatosensory processing in idiopathic isolated cervical dystonia: an observational study.

Author: De Pauw J, Cras P, Truijen S, Mercelis R, Michiels S, Saeys W, Vereeck L, Hallemans A, and De Hertogh W
Subjects: Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Torticollis physiopathology, Treatment Outcome, Visual Perception drug effects, Botulinum Toxins administration & dosage, Neuromuscular Agents administration & dosage, Posture, Proprioception drug effects, Torticollis drug therapy
Abstract: Background: Patients with idiopathic cervical dystonia (CD) experience involuntary neck muscle contractions, abnormal head position and pain accompanied by dysfunctions in somatosensory processes such as postural control, cervical sensorimotor and perception of visual verticality. First-line treatment is injection with botulinum toxin (BoNT). It remains unclear whether this affects sensorimotor processes., Aim: To investigate the effect of first-line care on deficiencies in somatosensory processes., Methods: In this observational study, 24 adult patients with idiopathic CD were assessed three times over a treatment period of 12 weeks following a single treatment with BoNT. Disease severity was assessed by a disease-specific questionnaire, rating scale and the visual analogue scale. Seated postural control was assessed with posturography, cervical sensorimotor control was assessed by the joint repositioning error with an eight-camera infrared motion analysis system during a head repositioning accuracy test and perception of visual verticality was assessed with the subjective visual vertical test., Results: Disease symptoms significantly improved following BoNT injections and deteriorated again at 12 weeks. This improvement was not accompanied by improved postural control, cervical sensorimotor control and perception of visual verticality. A trend toward improvement was seen; however, it did not reach the level of the control population., Conclusion: The peripheral and central treatment effects of BoNT have little to no effect on postural and cervical sensorimotor control in CD. Further research may explore whether sensory training or specialized exercise therapy improves somatosensory integration and everyday functioning in patients with CD.
Published: 2018
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33. Is perception of visual verticality intact in patients with idiopathic cervical dystonia?

Author: De Pauw J, De Hertogh W, Mercelis R, Saeys W, Hallemans A, Michiels S, Truijen S, and Cras P
Subjects: Adult, Aged, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Perceptual Disorders etiology, Torticollis complications, Perceptual Disorders physiopathology, Space Perception physiology, Torticollis physiopathology, Visual Perception physiology
Abstract: Idiopathic cervical dystonia (CD) is a focal dystonia characterized by an abnormal tilted or twisted head position. This abnormal head position could lead to a distorted perception of the visual vertical and spatial orientation. The aim of this cross-sectional study was to investigate whether the perception of the visual vertical is impaired in patients with CD. The subjective visual vertical test (SVV) was measured in 24 patients with CD and 30 controls. The SVV test is conducted in a completely darkened room. A laser bar is projected on an opposing white wall, which is deviated from the earth's gravitational vertical. Participants were seated with their head unrestrained and were instructed to position this bar vertically. The deviations in degrees (°) are corrected for the side of laterocollis in order to measure the E-effect. We found that patients were able to position the laser bar as equally close to the earth's gravitational vertical as controls (+ 0.67° SD ± 2.12 vs + 0.29° SD ± 1.08, p = 0.43). No E-effect was measured. Notwithstanding the abnormal position of the head, the perception of the visual vertical in patients with idiopathic CD is intact, possibly because of central neural compensatory mechanisms.
Published: 2018
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34. Postural control and the relation with cervical sensorimotor control in patients with idiopathic adult-onset cervical dystonia.

Author: De Pauw J, Mercelis R, Hallemans A, Van Gils G, Truijen S, Cras P, and De Hertogh W
Subjects: Adult, Age of Onset, Aged, Biomechanical Phenomena, Female, Humans, Male, Middle Aged, Neck physiopathology, Postural Balance physiology, Torticollis physiopathology, Tremor physiopathology
Abstract: Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions leading to an abnormal head posture or movements of the neck. Dysfunctions in somatosensory integration are present and previous data showed enlarged postural sway in stance. Postural control during quiet sitting and the correlation with cervical sensorimotor control were investigated. Postural control during quiet sitting was measured via body sway parameters in 23 patients with CD, regularly receiving botulinum toxin treatment and compared with 36 healthy controls. Amplitude and velocity of displacements of the center of pressure (CoP) were measured by two embedded force plates at 1000 Hz. Three samples of 30 s were recorded with the eyes open and closed. Disease-specific characteristics were obtained in all patients by the Tsui scale, Cervical Dystonia Impact Profile (CDIP-58) and Toronto Western Spasmodic Rating Scale (TWSTRS). Cervical sensorimotor control was assessed with an infrared Vicon system during a head repositioning task. Body sway amplitude and velocity were increased in patients with CD compared to healthy controls. CoP displacements were doubled in patients without head tremor and tripled in patients with a dystonic head tremor. Impairments in cervical sensorimotor control were correlated with larger CoP displacements (r s ranged from 0.608 to 0.748). Postural control is impaired and correlates with dysfunction in cervical sensorimotor control in patients with CD. Treatment is currently focused on the cervical area. Further research towards the potential value of postural control exercises is recommended.
Published: 2018
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35. Cervical sensorimotor control in idiopathic cervical dystonia: A cross-sectional study.

Author: De Pauw J, Mercelis R, Hallemans A, Michiels S, Truijen S, Cras P, and De Hertogh W
Subjects: Adult, Aged, Aged, 80 and over, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Head Movements physiology, Posture physiology, Torticollis physiopathology
Abstract: Objectives: Patients with idiopathic adult-onset cervical dystonia (CD) experience an abnormal head posture and involuntary muscle contractions. Although the exact areas affected in the central nervous system remain uncertain, impaired functions in systems stabilizing the head and neck are apparent such as the somatosensory and sensorimotor integration systems. The aim of the study is to investigate cervical sensorimotor control dysfunction in patients with CD., Material and Methods: Cervical sensorimotor control was assessed by a head repositioning task in 24 patients with CD and 70 asymptomatic controls. Blindfolded participants were asked to reposition their head to a previously memorized neutral head position (NHP) following an active movement (flexion, extension, left, and right rotation). The repositioning error (joint position error, JPE) was registered via 3D motion analysis with an eight-camera infrared system (VICON ® T10). Disease-specific characteristics of all patients were obtained via the Tsui scale, Cervical Dystonia Impact Profile (CDIP-58), and Toronto Western Spasmodic Rating Scale., Results: Patients with CD showed larger JPE than controls (mean difference of 1.5°, p < .006), and systematically 'overshoot', i.e. surpassed the NHP, whereas control subjects 'undershoot', i.e. fall behind the NHP. The JPE did not correlate with disease-specific characteristics., Conclusions: Cervical sensorimotor control is impaired in patients with CD. As cervical sensorimotor control can be trained, this might be a potential treatment option for therapy, adjuvant to botulinum toxin injections.
Published: 2017
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36. Measuring Disability in Patients With Cervical Dystonia According to the International Classification of Functioning, Disability and Health.

Author: De Pauw J, van der Velden K, Cox R, Truijen S, Cras P, Mercelis R, and De Hertogh W
Subjects: Cross-Sectional Studies, Female, Humans, International Classification of Functioning, Disability and Health, Male, Middle Aged, Pain Measurement, Severity of Illness Index, Cervical Vertebrae, Disability Evaluation, Dystonia physiopathology
Abstract: Cervical Dystonia (CD) is a rare movement disorder characterized by an abnormal head position. This cross-sectional study describes the health status and severity of disability using an internationally agreed language by applying the International Classification of Functioning, Disability and Health (ICF). Two disease-specific rating scales were administered to 30 patients with CD. By linking the individual answers to the ICF model, the frequency and severity of reported impairments and restrictions were estimated using a count-based method. Results showed that patients most frequently reported impairments linked to "neuromusculoskeletal and movement-related functions" and "mental functions." Most restrictions in activities were related to "interpersonal interactions and relations," "major life areas," and "community, social, and civic life." One third of the reported impairments can be labeled as severe disability. The findings show that CD causes disability in multiple levels of a patients' functioning in life, well beyond the cervical area.
Published: 2017
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37. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review.

Author: De Pauw J, Van der Velden K, Meirte J, Van Daele U, Truijen S, Cras P, Mercelis R, and De Hertogh W
Subjects: Activities of Daily Living, Databases, Bibliographic statistics & numerical data, Humans, Torticollis psychology, Physical Therapy Modalities, Torticollis rehabilitation
Abstract: Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended first line treatment is botulinum toxin type A (BoNT/A) injections. Physiotherapy is a potentially useful adjuvant, but little is known about its effectiveness. Consequently, our objective was to investigate the effectiveness of physiotherapy alone or as an adjuvant treatment to BoNT/A injections in cervical dystonia (CD) by means of a systematic literature review. Two online databases, PubMed and Web of Science, were searched for articles describing the effectiveness of physiotherapy treatment for CD. After screening, based on predefined in- and exclusion criteria, 16 studies were retained. Their methodological quality was assessed according to Cochrane guidelines. The methodological quality of most studies was low. Examples of shortcomings are small sample sizes, lack of randomization or blinding, and diversity in therapeutic techniques and outcome measures. Only seven studies were clinical trials; the remaining were either case reports or case series. The reported physiotherapy treatments included EMG biofeedback training, muscular elongation, postural exercises and electrotherapy. Improvements in head position, pain, cervical range of motion, quality of life and ADL have been reported, which is promising. Cautious interpretation on the effectiveness of physiotherapy as an adjuvant therapy is required. Before firm conclusions can be drawn, additional high quality trials are needed.
Published: 2014
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38. Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

Author: Verbeek S, Vanakker O, Mercelis R, Lipka AF, Haerynck F, Dullaers M, Verloo P, Van Coster R, and Verhelst H
Subjects: Adolescent, Autoimmune Diseases diagnosis, Chromosome Disorders complications, Chromosome Disorders diagnosis, Developmental Disabilities complications, Developmental Disabilities diagnosis, Developmental Disabilities genetics, Female, Genetic Diseases, X-Linked complications, Genetic Diseases, X-Linked diagnosis, Genetic Testing, Humans, Lambert-Eaton Myasthenic Syndrome complications, Lambert-Eaton Myasthenic Syndrome diagnosis, Autoimmune Diseases genetics, Chromosome Disorders genetics, Chromosome Duplication genetics, Forkhead Transcription Factors genetics, Genetic Diseases, X-Linked genetics, Genetic Predisposition to Disease genetics, Lambert-Eaton Myasthenic Syndrome genetics, Mutation genetics
Abstract: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the presynaptic neuromuscular junction, typically occurring in adults as a paraneoplastic syndrome. Only rare cases have been reported in childhood. In most childhood cases, malignancies have not been detected but a propensity to autoimmune disease was noticed. Nevertheless, little is known about genetic factors that may contribute to the susceptibility of an individual to develop LEMS. We report on a 13-year-old girl, known with the Xp11.22-p11.23 duplication syndrome, who presented with severe non-paraneoplastic LEMS. The potential role of this microduplication syndrome in the development of LEMS is explored. Previous literature review of twelve Xp11.2 duplication syndrome patients showed that three of them suffered from various autoimmune diseases. The common duplicated region in those three patients and the presented case comprises 12 disease-associated genes including the FOXP3 (Forkhead Box P3) and WAS (Wiskott-Aldrich syndrome) gene, both implicated in immune function. However, it is unclear whether increased gene dosage of one or both of these genes can cause susceptibility to autoimmune diseases. In conclusion, the presented case emphasizes that autoimmune disease is a recurrent feature of the Xp11.2 duplication syndrome, which should be considered in the follow-up of these patients. The exact mechanism underlying this autoimmune propensity remains to be elucidated., (Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
Published: 2014
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39. Childhood chronic inflammatory demyelinating polyneuroradiculopathy--three cases and a review of the literature.

Author: Riekhoff AG, Jadoul C, Mercelis R, Cras P, and Ceulemans BP
Subjects: Adolescent, Adult, Anti-Inflammatory Agents therapeutic use, Biopsy, Child, Dexamethasone therapeutic use, Diagnosis, Differential, Disease Progression, Electromyography, Female, Foot, Gait Disorders, Neurologic drug therapy, Gait Disorders, Neurologic etiology, Humans, Immunoglobulins, Intravenous therapeutic use, Magnetic Resonance Imaging, Male, Muscle Weakness etiology, Neurologic Examination, Orthotic Devices, Plasma Exchange, Plasmapheresis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating epidemiology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating immunology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating therapy, Recurrence, Treatment Outcome, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating pathology
Abstract: Background: Chronic inflammatory demyelinating polyneuroradiculopathy (CIDP) is an autoimmune disease of the peripheral nervous system, causing demyelination and even axonal degeneration. In children, abnormal gait as a first sign of muscle weakness is a frequent reason to seek medical attention. Diagnosis is made on the basis of clinical characteristics, electromyography and nerve conduction studies, and elevated protein in cerebrospinal fluid., Aims: We present three new cases of CIDP. The literature was reviewed in order to obtain more information on presentation, outcome and treatment strategies world-wide., Results: The course of disease can be relapsing-remitting or chronic-progressive. From case series it is known that first-line immunotherapy (intravenously administered immunoglobulin, corticosteroids or plasmapheresis) is initially of benefit in most children with CIDP. There is little evidence, however, on second-line therapies as azathioprine, cyclosporine A, mycophenolate mofetil, methothrexate, cyclophosphamide and IFN alpha. Although the outcome of children with CIDP is generally regarded to be good, disease related disability can be severe., Conclusion: Childhood CIDP is rare. In general and in comparison to adults, children tend to have a more acute progressive onset, with more severe symptoms. Showing a higher tendency towards a relapsing-remitting course, children often show a better and faster improvement after therapy, and a more favorable outcome. Swift recognition of CIDP and empiric start of treatment are considered important to avoid potentially irreversible axonal damage and associated disability. Response to first-line therapies is usually favorable, however recommendations regarding the choice of second-line therapy can only be made on the basis of current practice described in case reports. Safety and efficacy data are insufficient. The cases described show that trial and error are often involved in finding an optimal treatment strategy, especially in those patients refractory to first-line treatment or with a prolonged course. Clinical experience with immunomodulatory treatment is paramount when treating children with CIDP., (Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
Published: 2012
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40. Quality of life after anterior mediastinal mass resection: a prospective study comparing open with robotic-assisted thoracoscopic resection.

Author: Balduyck B, Hendriks JM, Lauwers P, Mercelis R, Ten Broecke P, and Van Schil P
Subjects: Adult, Case-Control Studies, Humans, Middle Aged, Prospective Studies, Sternotomy methods, Thymectomy methods, Treatment Outcome, Young Adult, Mediastinal Neoplasms surgery, Postoperative Complications etiology, Quality of Life, Robotics, Thoracoscopy methods
Abstract: Objective: To prospectively evaluate quality of life (QoL) evolution after robotic-assisted thoracoscopic or open anterior mediastinal tumour resection with the European Organisation for Research and Treatment of Cancer (EORTC) QoL Questionnaire-C30 and the lung cancer-specific module, LC-13., Methods: From January 2004 to December 2008, QoL was prospectively recorded in all patients undergoing surgery for mediastinal tumours. A total of 14 patients underwent thoracoscopic resection using the da Vinci robotic system (Intuitive Surgical, Inc., Mountain View, CA, USA), and 22 patients open resection through sternotomy. Questionnaires were administered before surgery and 1, 3, 6 and 12 months, postoperatively, with response rates of 100%, 86.1%, 94.4%; 75.0% and 86.1%, respectively., Results: Both approaches had comparable preoperative patients' characteristics and QoL subscales. Open resection by sternotomy was characterised by a significant decrease in general functioning 1 month after surgery (physical functioning p=0.001, role functioning p=0.001, and social functioning p=0.044). Patients also complained of increased thoracic pain in the first 3 months after surgery (p=0.017). After a da Vinci robotic resection QoL scores approximated baseline preoperative values 1 month after surgery, with the exception of increase in thoracic and shoulder pain the first 3 months after surgery (p=0.028 and 0.029, respectively)., Conclusions: Numerous techniques have been published with different degrees of invasiveness, generating the existing controversy as to which is the best surgical approach for anterior mediastinal tumours. The high burden of decreased physical functioning reported after sternotomy is not seen after a da Vinci robotic-assisted thoracoscopic resection. The initial experience and postoperative QoL data are excellent and, therefore, the da Vinci robot will stay our future technique of choice for the treatment of resectable mediastinal tumours smaller than 4 cm on imaging techniques., (Copyright © 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.)
Published: 2011
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41. Diagnostic utility of stimulated single-fiber electromyography of the orbicularis oculi muscle in patients with suspected ocular myasthenia.

Author: Mercelis R and Merckaert V
Subjects: Electromyography methods, Humans, Oculomotor Muscles pathology, Electric Stimulation methods, Muscle Fibers, Skeletal physiology, Myasthenia Gravis diagnosis, Oculomotor Muscles physiopathology
Abstract: Stimulated single-fiber electromyography (SSFEMG) is a valuable diagnostic tool in cases of myasthenia gravis with limited disease. From 1990 to 2008 SSFEMG in the orbicularis oculi muscle (OO) was performed in a cohort of 456 patients referred with clinical suspicion of myasthenia gravis (MG) and exclusively ocular symptoms. A diagnosis of MG was made on clinical grounds in 103 patients. In this patient cohort, the specificity of SSFEMG for myasthenia was 97%, and the sensitivity was 80%. MG patients with a normal SSFEMG had a benign clinical course. This study confirms a high specificity and sensitivity of SSFEMG when it is performed on patients suspected to have ocular MG. In such patients, a normal SSFEMG of the OO predicts a benign clinical course., (Copyright © 2011 Wiley Periodicals, Inc.)
Published: 2011
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42. The prognostic value of the EEG in postanoxic coma.

Author: Roest A, van Bets B, Jorens PG, Baar I, Weyler J, and Mercelis R
Subjects: Adolescent, Adult, Age Factors, Aged, Cohort Studies, Coma etiology, Glasgow Outcome Scale, Humans, Hypoxia, Brain physiopathology, Hypoxia, Brain therapy, Middle Aged, Predictive Value of Tests, Retrospective Studies, Survival Rate, Treatment Outcome, Young Adult, Coma mortality, Coma physiopathology, Critical Care, Electroencephalography, Hypoxia, Brain complications
Abstract: Introduction: Several studies have been performed to assess the prognostic value of early neurological and neurophysiological findings in patients with postanoxic coma, but they have not led to precise, generally accepted, prognostic rules. This study was performed to assess whether it is possible to create a prognostic outcome table, using a combination of clinical variables and the electroencephalogram (EEG)., Methods: Clinical variables and EEG were registered on admission, at day 1-5, day 6-14, and day 15-42, and were related to the Glasgow outcome scale (GOS) at 30 and 180 days. The EEG abnormalities were categorized using the EEG classification system proposed by Synek (J Clin Neurophysiol 5:161-174, 1988) and Young et al. (Can J Neurol Sci 24:320-325, 1997). These EEG classifications were then further divided into prognostic categories., Results: Age was a significant predictor of outcome. The early recorded clinical variables were the most predictive and the GCS showed a limited prognostic value. The first EEG registration proved to be the most predictive. The Synek-classification was divided into three prognostic categories: "benign," "malignant," and "fatal" and the Young-classification into four: "benign," "intermediate," "malignant," and "fatal." An outcome prediction table is proposed using the Young-classification stratified for age., Conclusion: Age is an important variable determining the prognostic value of the EEG and should always be taken into consideration. The prognostic categories, especially when derived from the Young-classification, showed a good prognostic value. Although this is a pilot study, we believe that the revised prognostic categories have a good prognostic value in predicting outcome and are worth further investigation and validation.
Published: 2009
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43. Recurrent myasthenia gravis due to a pleural implant 3 years after radical thymectomy.

Author: Heyman SR, De Raeve H, Mercelis R, De Pooter C, and Van Schil P
Subjects: Adult, Follow-Up Studies, Humans, Immunohistochemistry, Male, Neoplasm Invasiveness pathology, Neoplasm Recurrence, Local diagnosis, Neoplasm Staging, Pleural Neoplasms surgery, Recurrence, Reoperation, Risk Assessment, Thoracic Surgery, Video-Assisted methods, Thymectomy adverse effects, Thymectomy methods, Thymoma secondary, Thymus Neoplasms pathology, Treatment Outcome, Myasthenia Gravis diagnosis, Neoplasm Recurrence, Local surgery, Pleural Neoplasms secondary, Prostheses and Implants adverse effects, Thymoma surgery, Thymus Neoplasms surgery
Abstract: Although recurrence of a thymoma is rare, pleural dissemination or local relapses have been described. We present a patient who underwent complete thymectomy for a thymoma, type AB according to the World Health Organization classification and stage II according to Masaoka, followed by adjuvant radiotherapy. Three years later, a relapse of the myasthenic symptoms occurred. An isolated pleural implant above the left diaphragm was removed by video-assisted thoracoscopy. Pathology confirmed the recurrence of the thymoma. As this is a rare occurrence, no precise therapeutic guidelines exist. In our case, surgical resection of the recurrence with adjuvant immunomodulating therapy for myasthenia provided good results.
Published: 2008
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44. Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Author: Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, and De Jonghe P
Subjects: Adolescent, Adult, Age of Onset, Aged, Amides, Aminobutyrates, Butyrates, Child, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged, Polyneuropathies complications, Polyneuropathies pathology, Spastic Paraplegia, Hereditary complications, Spastic Paraplegia, Hereditary pathology, Genetic Predisposition to Disease, Membrane Proteins genetics, Mutation, Polyneuropathies genetics, Spastic Paraplegia, Hereditary genetics, Vesicular Transport Proteins genetics
Abstract: Objective: To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia., Design: We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic paraplegia phenotypes, which were negative for mutations in SPG4., Results: In 12 probands (6.6%), we identified 12 different SPG3A mutations (11 missense and 1 insertion/frameshift) of which 7 were novel and 3 were de novo. We found incomplete penetrance in 1 family (G482V). In most cases, SPG3A mutations were associated with an early age at onset (mean, 3 y); however, in 1 family (R495W mutation), symptoms started later (mean, 14 y) with clear intrafamilial variability (8-28 y). Six patients with an SPG3A mutation (F151S, Q191R, M408T, G469A, R495W) originating from 5 unrelated families presented with a complex form of hereditary spastic paraplegia associated with a neuropathy (17%). Our electrophysiological and pathological findings confirmed an axonal sensory-motor neuropathy. There was no correlation between the genotype and the presence of a neuropathy., Conclusions: We conclude that mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population. SPG3A is more often associated with a neuropathy than previously assumed. Therefore, patients with a bipyramidal syndrome and a neuropathy should be screened for mutations in SPG3A.
Published: 2007
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45. Abnormal single-fiber electromyography in patients not having myasthenia: risk for diagnostic confusion?

Author: Mercelis R
Subjects: Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Diagnosis, Differential, Electric Stimulation, Female, Humans, Lambert-Eaton Myasthenic Syndrome diagnosis, Lambert-Eaton Myasthenic Syndrome physiopathology, Male, Middle Aged, Muscle, Skeletal abnormalities, Muscle, Skeletal physiopathology, Myasthenia Gravis complications, Myasthenia Gravis physiopathology, Sensitivity and Specificity, Thymoma complications, Thymoma diagnosis, Thymoma physiopathology, Diagnostic Errors, Electromyography methods, Myasthenia Gravis diagnosis, Risk
Published: 2003
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46. Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.

Author: Akagi R, Nishitani C, Harigae H, Horie Y, Garbaczewski L, Hassoun A, Mercelis R, Verstraeten L, and Sassa S
Subjects: Age of Onset, Alleles, DNA, Complementary chemistry, DNA, Complementary genetics, Family Health, Female, Genotype, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense, Point Mutation, Porphobilinogen Synthase genetics, Porphyrias genetics, Sequence Analysis, DNA, Porphobilinogen Synthase deficiency, Porphyrias enzymology
Abstract: Cloning, expression, and genotype studies of the defective gene for delta-aminolevulinate dehydratase (ALAD) in a patient with an unusual late onset of ALAD deficiency porphyria (ADP) were carried out. This patient was unique in that he developed the inherited disease, together with polycythemia, at the age of 63. ALAD activity in erythrocytes of the patient was less than 1% of the normal control level. ALAD complementary DNA (cDNA) isolated from the patient's Epstein-Barr virus (EBV)-transformed lymphoblastoid cells had 2 base transitions in the same allele, G(177) to C and G(397) to A, resulting in amino acid substitutions K59N and G133R, respectively. It has been verified that the patient had no other ALAD mutations in this and in the other allele. By restriction fragment length polymorphism (RFLP) analysis, all family members of the proband who had one-half ALAD activity compared with the ALAD activity of the healthy control were shown to have the same set of base transitions. Expression of ALAD cDNA in CHO cells revealed that K59N cDNA produced a protein with normal ALAD activity, while G133R and K59N/G133R cDNA produced proteins with 8% and 16% ALAD activity, respectively, compared with that expressed by the wild type cDNA. These findings indicate that while the proband was heterozygous for ALAD deficiency, the G(397) to A transition resulting in the G133R substitution is responsible for ADP, and the clinical porphyria developed presumably due to an expansion of the polycythemic clone in erythrocytes that carried the mutant alad allele.
Published: 2000

47. Value of somatosensory and motor evoked potentials in predicting arm recovery after a stroke.

Author: Feys H, Van Hees J, Bruyninckx F, Mercelis R, and De Weerdt W
Subjects: Analysis of Variance, Electroencephalography, Humans, Predictive Value of Tests, Arm physiopathology, Evoked Potentials, Motor physiology, Evoked Potentials, Somatosensory physiology, Stroke physiopathology
Abstract: Objectives: Prediction of motor recovery in the arm in patients with stroke is generally based on clinical examination. However, neurophysiological measures may also have a predictive value. The aims of this study were to assess the role of somatosensory (SSEPs) and motor (MEPs) evoked potentials in the prediction of arm motor recovery and to determine whether these measures added further predictive information to that gained from clinical examination., Methods: Sixty four patients who had had a stroke and presented with obvious motor deficit of the arm were examined in terms of three clinical variables (motor performance, muscle tone, and overall disability) and for SSEPs and MEPs. Clinical and neurophysiological examinations were done at entry to the study (2 to 5 weeks poststroke), and at about 2 months after stroke. Further clinical follow up was conducted at 6 and 12 months after stroke., Results: Neurophysiological measures made in the acute phase were of little use alone in predicting motor recovery of the arm at 2, 6, and 12 months after stroke. At 2 months, the absence of SSEPs and MEPs indicated a very poor outcome. Conversely, if the responses were preserved, a great variation in motor outcome was found. Multiple regression analysis showed that the addition of SSEPs and MEPs to the clinical examination increased the possibility of predicting arm recovery in the long term. In the acute phase, the combination of the motor score and SSEPs were best able to predict outcome. The long term outcome based on variables taken at 2 months, was best predicted through incorporating the three clinical measures and MEPs., Conclusions: Neurophysiological measures alone are of limited value in predicting long term outcome. However, predictive accuracy is substantially improved through the combined use of both of these measures and clinical variables.
Published: 2000
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48. Dysphagia in a patient with giant osteophytes: case presentation and review of the literature.

Author: Ebo D, Goethals L, Bracke P, Mercelis R, and De Clerck LS
Subjects: Aged, Deglutition Disorders diagnostic imaging, Humans, Hyperostosis, Diffuse Idiopathic Skeletal diagnostic imaging, Male, Ossification, Heterotopic diagnostic imaging, Spinal Stenosis diagnostic imaging, Spinal Stenosis etiology, Tomography, X-Ray Computed, Deglutition Disorders etiology, Hyperostosis, Diffuse Idiopathic Skeletal complications, Longitudinal Ligaments diagnostic imaging, Ossification, Heterotopic complications, Spinal Stenosis complications
Abstract: A patient with increasing dysphagia due to external bone compression of the oesophagus is presented. Radiographic evaluation revealed the underlying condition to be a diffuse idiopathic skeletal hyperostosis with exuberant and bumpy change within the anterior longitudinal ligament.
Published: 2000
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49. Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes.

Author: Sassa S, Fujita H, Doss M, Hassoun A, Verstraeten L, Mercelis R, and Kappas A
Subjects: Adult, Aged, Female, Heme analysis, Homozygote, Humans, Hydroxymethylbilane Synthase metabolism, Immunoelectrophoresis, Liver Diseases blood, Liver Diseases enzymology, Male, Middle Aged, Porphobilinogen Synthase blood, Porphyrias blood, Porphyrias enzymology, Erythrocytes enzymology, Liver Diseases genetics, Lymphocytes enzymology, Porphobilinogen Synthase deficiency, Porphyrias genetics
Abstract: Activities of delta-aminolevulinic acid (ALA) dehydratase and porphobilinogen (PBG) deaminase, and haem content were determined in EB-virus transformed lymphocytes from two patients with homozygous ALA dehydratase deficiency, and their family members to determine the expression of the specific gene defect in this cell type. ALA dehydratase activity, but not PBG deaminase activity or haem content, was markedly decreased in lymphocyte preparations from both patients with homozygous enzyme deficiency, and moderately decreased in subjects heterozygous for enzyme deficiency. Immunochemical quantitation of erythrocyte ALA dehydratase suggested the presence of a cross-reactive material in a patient with a late-onset of acute hepatic porphyria due to the homozygous enzyme deficiency.
Published: 1991
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50. Symptomatic sarcoid myopathy with minimal involvement of the peripheral nerves.

Author: Colebunders R, Mercelis R, Buyssens N, and Martin JJ
Subjects: Female, Humans, Middle Aged, Muscles pathology, Prednisolone therapeutic use, Sarcoidosis drug therapy, Sarcoidosis pathology, Muscle Hypotonia etiology, Muscular Diseases complications, Sarcoidosis complications
Published: 1984
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