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1. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

Author

J.-M. Saudubray, David Cohen, Olivier Lyon-Caen, J.-C. Turpin, N. Baumann, and Frédéric Sedel

Subjects
Succinic semialdehyde dehydrogenase deficiency, medicine.medical_specialty, Catatonia, business.industry, Disease, medicine.disease, Cerebrotendinous Xanthomatosis, Personality changes, Genetics, medicine, Adrenoleukodystrophy, Family history, Psychiatry, business, Genetics (clinical), Psychopathology
Abstract

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical picture with systemic, cognitive or motor neurological signs. However, in some cases, psychiatric signs may be apparently isolated. We propose a schematic classification of IEMs into three groups according to the type of psychiatric signs at onset. Group 1 represents emergencies, in which disorders can present with acute and recurrent attacks of confusion, sometimes misdiagnosed as acute psychosis. Diseases in this group include urea cycle defects, homocysteine remethylation defects and porphyrias. Group 2 includes diseases with chronic psychiatric symptoms arising in adolescence or adulthood. Catatonia, visual hallucinations, and aggravation with treatments are often observed. This group includes homocystinurias, Wilson disease, adrenoleukodystrophy and some lysosomal disorders. Group 3 is characterized by mild mental retardation and late-onset behavioural or personality changes. This includes homocystinurias, cerebrotendinous xanthomatosis, nonketotic hyperglycinaemia, monoamine oxidase A deficiency, succinic semialdehyde dehydrogenase deficiency, creatine transporter deficiency, and α and β mannosidosis. Because specific treatments should be more effective at the ‘psychiatric stage’ before the occurrence of irreversible neurological lesions, clinicians should be aware of atypical psychiatric symptoms or subtle organic signs that are suggestive of an IEM. Here we present an overview of IEMs potentially revealed by psychiatric problems in adolescence or adulthood and provide a diagnostic strategy to guide metabolic investigations.

Published
2007
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2. Troubles psychiatriques révélateurs d’une maladie de Niemann-Pick de type C à l’âge adulte

Author

J. de Seze, Jean-Marie Cuisset, L. Tyvaert, Patrick Vermersch, M.-T. Vanier, J.-C. Turpin, and T. Stojkovic

Subjects
Neurology, Neurology (clinical)
Abstract

Resume Introduction La maladie de Niemann-Pick de type C (NPC) est une lipidose lysosomale a expression neuroviscerale, de transmission autosomique recessive. Observation Une patiente de 31 ans, droitiere, etait suivie pour une schizophrenie depuis l’âge de 18 ans. A 25 ans, apparurent des troubles de l’equilibre, une dysarthrie et des troubles cognitifs. La patiente presentait un syndrome cerebelleux cinetique et statique, une dysarthrie, une paralysie de la verticalite du regard, une alteration du jugement, de la comprehension et une desorientation temporospatiale. L’imagerie cerebrale etait normale. Une hypercholesterolemie et une cytolyse hepatique motiverent une echographie abdominale, revelant une hepatosplenomegalie. L’ensemble des signes et symptomes faisait suspecter une maladie de Niemann-Pick de type C. Le diagnostic a ete affirme sur une culture de fibroblastes par la mise en evidence d’une surcharge lysosomale en cholesterol (test a la filipine) et un defaut d’esterification du cholesterol induite par les LDL. Le gene implique (determine par complementation genetique) etait NPC1. Discussion L’expression phenotypique de la maladie de NPC est tres heterogene. La forme de l’adulte est moins frequente et d’evolution lente. Elle peut etre dominee par des troubles psychiatriques avec manifestations neurologiques tardives. De plus, la prise chronique de psychotropes retarde souvent le diagnostic. Conclusion L’association de troubles psychiatriques a un syndrome cerebelleux et a une paralysie de la verticalite du regard (± splenomegalie) sont evocateurs d’une maladie de Niemann-Pick C. Le diagnostic biologique repose sur une biopsie cutanee et un test a la filipine.

Published
2005
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3. Mutation frequencies of the cytochromeCYP2D6 gene in Parkinson disease patients and in families

Author

Nathalie Gérard, G. Lucotte, Stéphane Panserat, J.-C. Turpin, and R. Krishnamoorthy

Subjects
Genetics, Mutation, Biology, Gene mutation, medicine.disease_cause, chemistry.chemical_compound, Debrisoquine, chemistry, Polymorphism (computer science), Genotype, medicine, Mutation frequency, Restriction fragment length polymorphism, Allele, Genetics (clinical)
Abstract

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees. 25 refs., 1 fig., 2 tabs.

Published
1996
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4. A New Mutation in the HEXA Gene Associated With a Spinal Muscular Atrophy Phenotype

Author

P. Rondot, Ruth Navon, Michel Fardeau, J. C. Turpin, T. Korczyn, Bruno Eymard, R. Khosravi, Martial Masson, Nicole Baumann, Sandro Sonnino, and M. Lefevre

Subjects
Adult, Male, Molecular Sequence Data, Biology, Gangliosidosis, Compound heterozygosity, Polymerase Chain Reaction, Muscular Atrophy, Spinal, Exon, Hexosaminidase A, Complementary DNA, medicine, Humans, Hexosaminidase, Polymorphism, Single-Stranded Conformational, Genetics, Base Sequence, Spinal muscular atrophy, HEXA, medicine.disease, beta-N-Acetylhexosaminidases, Phenotype, Mutation, Mutation (genetic algorithm), Female, Neurology (clinical)
Abstract

Article abstract-We describe two adult siblings who had had mild GM sub 2 gangliosidosis since childhood. They presented with spinal muscular atrophy and dysarthria, and one sibling also had mental disturbances. Laboratory studies established the diagnosis of the B1 variant of GM2 gangliosidosis, because the hexosaminidase (Hex) A deficiency was not present upon testing with the unsulfated synthetic substrate 4-methylumbelliferyl N-acetylglucosaminide. HEXA gene analysis proved that the patients are compound heterozygotes for the previously identified G533 -->A mutation and for a new mutation, G1171-->A, at exon 11. This new mutation affects a conserved amino acid and results in a Val-->Met substitution at position 391 of the HEXA gene. Full sequence of the alpha-subunit cDNA of Hex A revealed no other mutation. Assays for Hex A activities in patients suspected of having GM2 gangliosidosis should be performed with the sulfated substrate 4-methylumbelliferyl N-acetylglucosamine 6-sulfate.NEUROLOGY 1995;45: 539-543

Published
1995
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5. 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. De Andres, P. De Deyn, G. Guomundsson, B. Herron, J. Barado, J. L. Gastaut, Guglielmo Scarlato, F. Poron, Nicola Jones, H. Teisserenc, C. P. Hawkins, A. J. Steck, H. C. Chandler, S. Blanc, J. H. Faiss, Jm. Soler Insa, I. Sarova-Ponchas, M. Malberin, A. Sackmann, G. De Vuono, K. Kaiser-Rub, K. Badhia, E. Szwabowska-Orzeszko, S. Ramm, C. Jodice, G. Franck, J. Marta-Moreno, R. Sciolla, C. Fritz, A. Attaccalite, F. Weber, E. Neuman, M. Cannata, A. Rodriguez, I. Nachainkin, R. Raffaele, T. S. Yu, N. Losseff, E. Fabrizio, C. Khati, M. Keipes, M. P. Ortega, M. Ramos-Alvarez, E. Brambilla, A. Tarasov, K. H. Wollinsky, O. B. Paulson, F. Boller, G. Bozzato, H. Wagnur, R. Canton, D. Testa, E. Kutluaye, M. Calopa, D. Smadja, G. Malatesta, F. Baggi, A. Stracciari, G. Daral, G. Avanzini, J. Perret, J. Arenas, P. Boon, I. Gomes, A. Vortmeyer, P. Cesaro, S. Venz, E. Bernd Ringelstein, N. Milani, D. Laplane, P. Seibel, E. Tournier-Lasserve, Alexis Brice, L. Motti, E. Wascher, R. J. Abbot, F. Miralles, A. Turon, P. De Camilli, G. Luz, G. C. Guazzi, S. Tekin, F. Lesoin, T. Kryst, N. Lannoy, F. Gerstenbrand, S. Ballivet, H. A. M. van Diemen, J. Lopez-ArLandis, P. Bell, A. Silvani, M. A. Garcia, S. Vorstrup, D. Langdon, S. Ueno, B. Sander, V. Ozurk, C. Gurses, P. Berlit, J. M. Martinez-Lage, M. Treacy, S. O. Rodiek, S. Cherninkova, J. Grimaud, P. Marozzi, K. Hasert, S. Goldman, S. H. Ingwersen, A. Taghavy, T. Roig, R. Harper, I. Sarova-Pinchas, Anthony H.V. Schapira, R. Lebtahi, A. Vidaller, B. Stankov, D. Link, J. p. Malin, V. Petrova, Ludwig Kappos, J. L. Ochoa, T. Torbergsen, M. Carpo, M. Donato, Simon Shorvon, J. Mieszkowski, J. Perez-Serra, Raymond Voltz, G. Comi, S. Rafique, A. Perez-Sempere, N. Khalfallah, S. Bailleul, M. Borgers, S. Banfi, S. Mossman, A. Laihinen, G. Filippini, R. A. Grunewald, E. Stern, H. D. Herrmann, A. G. Droogan, P. Xue, A. Grilo, L. La Mantia, J. H. J. Wokke, S. Pizzul, Kie Kian Ang, S. Rapaport, W. Szaplyko, B. Romero, P. Brunet, A. Albanese, C. Davie, V. Crespi, F. Birklein, H. Sharif, L. Jose, D. Auer, N. Heye, Martin N. Rossor, C. E. Henderson, M. J. Koepp, J. Rubio, P. L. Baron, S. Mahal, Juha O. Rinne, J. I. Emparanza, S. E. C. Davies, Frederik Barkhof, M. Riva, R. E. Brenner, B. A. Pope, Lemaire, E. Dupont, D. Ulbricht, G. C. Pastorino, R. Retska, E. Chroni, A. Danielli, V. Malashkhia, T. Canet, J. C. Garcia-Valdecasas, J. Serena, R. A. Pfeiffer, B. Wirk, B. Muzzetto, V. Caruso, M. L. Giros, A. Ming Wang, E. L. E. Guern, F. Bille-Turg, Y. Satoh, C. H. Franke, M. Ait-Kaci-Ahmed, D. Genis, T. Pasierski, D. Riva, M. Panisset, A. Chamorro, P.A. van Doorn, S. Schellong, H. Hamer, F. Durif, P. Krauseneck, Y. Bahou, B. A. Pickut, M. Rijnites, H. Nyland, G. Jager, L. L. Serra, A. Rohl, X. P. Li, O. Arena, Hubert Kwieciński, N. Milpied, M. C. Bourdel, S. Assami, L. Law, J. Moszkowski, J. W. Thorpe, M. Aguennouz, R. Martin, D. Hoffmann, P. Morris, A. Destée, D. J. Charron, U. Senin, A. P. SempereE, M. Dreyfus, A. L. Benabid, M. Gomez, S. Heindle, M. C. Morel-Kopp, M. Hennerici, A. I. Santos, M. Djannelidze, N. Artemis, John Collinge, T. Rundek, M. Y. Voloshin, P. de Castro, Th. Wiethege, D. A. S. Compston, D. Schiffer, A. J. Hughes, D. Jimenez, V. Parlato, A. Papadimitriou, J. M. Gergaud, R. Sterzi, J. Arpa, G. de Pinieux, F. Buggle, P. Gimbergues, H. Ruottinen, R. Marzella, W. Koehler, Y. Yurekli, A. Haase, Z. Privorkin, G. K. Harvey, B. Chave, A. J. Grau, E. M. Stadlan, J. List, C. Zorzi, B.W. van Oosten, P. Derkinderen, B. Casati, J. M. Maloteaux, K. Vahedi, W. L. J. van Putten, J. C. Sabourin, D. Lorenzetti, Plenevaux, J. W. B. Moll, A. Morento Fernandez, M. Lema, M. A. Horsfleld, P. De Jongh, S. Gikova, K. Kutluk, Monique M.B. Breteler, P. Saddier, A. Berbinschi, R. E. Cull, P. Echaniz, H. Kober, C. Minault, V. Kramer, A. L. Edal, S. Passero, T. Eckardt, K. E. Davies, A. Salmaggi, R. Kaiser, A. A. Grasso, Claudio Mariani, G. Egersbach, Hakan Gurvit, O. Dereeper, C. Vital, L. Wrabetz, A. Vecino, M. Aguilar, G. Bielicki, H. Becher, J. Castro, S. Iotti, M. G. Natali-Sora, E. Berta, S. Carlomagno, L. Ayuso-Peralta, P. H. Rondepierre, I. Bonaventura, B. V. Deuren, N. Van Blercom, M. Sciaky, J. Faber, M. Alberoni, M. Nieto, F. Sellal, C. Stelmasiak, M. Takao, J. Bradley, D. Zegers de Beyl, H. Porsche, G. Goi, H. Pongratz, F. Chapon, S. Happe, Robin S. Howard, B. Weder, S. Vlaski-Jekic, J. M. Ferro, R. Nemni, A. Daif, Herbert Budka, W. Van Paesschen, B. Waldecker, F. Carceller, J. Lacau, F. Soga, J. Peres Serra, E. Timmerman, A. M. vd Vliet, J. L. Emparanza, N. Vanacore, A. Pizzuti, N. Marti, A. Davalos, N. Ayraud, U. Zettl, J. Vivancos, Z. Katsarou, H. M. Mehdorn, G. Geraud, M. Merlini, M. Schröter, A. Ebner, M. Lanteri-Minet, R. Soler, G. P. Anzola, S. L. Hauser, L. Cahalon, S. DiDonato, R. Cantello, M. Marchau, J. Gioanni, F. Heidenreich, J. Manuel Martinez Lage, P. Descoins, F. Woimant, J. F. Campo, M. H. Verdier-taillefer, M. S. F. Barkhof, G. J. Kemp, A. O. Ceballos-Baumann, J. Berciano, M. Guidi, Tarek A. Yousry, B. Chandra, A. Rapoport, P. Canhao, A. Spitzer, T. Maeda, J. M. Pereira Monteiro, V. Paquis, Th. Mokrusch, F. J. Arrieta, I. Sangla, F. Canizares-Liebana, Lang Chr, André Delacourte, V. Fetoni, P. Kovachev, D. Kidd, L. Ferini-Strambi, E. Donati, E. Idman, A. Chio, C. Queiros, D. Michaelis, S. Boyacigil, A. Rodrigo, S. M. Yelamos, B. Chassande, P. Louwen, C. Tranchant, E. Ciafalon, A. Lombardo, A. Twijnstra, A. L. Fernandez, H. Kott, A. Cannas, N. Zsurger, T. Zileli, E. Metin, P. C. Bain, G. Fromont, B. Tedesi, A. Liberani, X. Navarro, M. C. Rowbotham, V. Hachinski, F. Cavalcanti, W. Rostene, R. M. Gardiner, F. Gonzalez, B. Köster, E. A. van der Veen, J. P. Lefaucheur, C. Marescaux, D. Boucquey, E. Parati, S. Yamaguchi, A. S. Orb, R. Grant, G. D. P. Smith, P. Goethals, M. Haguenau, G. Georgiev, I. N. van Schaik, Guy A. Rouleau, E. Iceman, G. Fayet, M. G. Kaplitt, C. Baracchini, H. Magnusson, G. Meneghetti, N. Malichard, M. L. Subira, D. Mancia, A. Berenguer, D. Navarrete Palau, H. Franssen, G. Kiziltan, M. P. Lopez, J. Montalt, S. Norby, R. Piedra Crespo, T. L. Rothstein, R. Falip, B. YalÇiner, F. Chedru, I. W. Thorpe, F. W. Heatley, D. S. C. Ochoa, C. Labaune, M. Devoti, O. Lider, Jakob Korf, N. Suzuki, E. A. Maguire, A. Moulignier, J. C. van Swieten, F. Monaco, J. Cartron, A. Steck, B. Uludag, M. Alexandra, H. Reichmann, T. Rossi, L. E. Claveria, A. M. Crouzel, M. A. Mena, J. Gasnault, J. W. Kowalski, S. I. Mellgren, V. Feigin, L. Demisch, J. Montalban, J. Renato, J. Mathieu, N. Goebels, L. Bava, K. Kunre, M. Pulik, S. Di Donato, C. Tzekov, H. Veldman, S. Giménez-Roldan, B. Lechevalier, L. Redondo, B. Pillon, M. Gugenheim, E. Roullet, J. M. Valdueza, C. Gori, H. J. Friedrich, L. de Saint Martin, F. Block, E. Basart, M. Heilmann, B. Becq Giraudon, C. Rodolico, G. Stevanin, Elizabeth K. Warrington, A. T. M. Willemsen, K. Kunze, C. Ben Hamida, M. Alam, J. R. ùther, A. Battistel, G. Della Marca, Richard S. J. Frackowiak, F. Palau, T. Brandt, Chicoutimi, L. Bove, L. Callea, A. Jaspert, T. Klopstock, K. Fassbender, Alan J. Thomas, A. Ferbert, V. Nunes, Douglas Russell, P. Garancini, C. Sanz-Sebastian, O. Santiag, G. Dhaenens, G. Seidel, I. Savic, A. Florea-Strat, M. Rousseaux, N. Catala, E. O'Sullivan, M. J. Manifacier, H. Kurtel, T. Mendel, P. Chariot, M. Salas, D. Brenton, R. Lopez, J. Thorpe, Jimmy D. Bell, E. Hofmann, E. Botia, J. Pacquereau, A. Struppler, C. d'Aniello, D. Conway, A. Garcia-Merino, K. Toyooka, S. Hodgkinson, E. Ciusani, Stefano Bastianello, A. Andrade Filho, M. Zaffaroni, G. Pleiffer, F. Coria, A. Schwartz, D. Baltadjiev, I. Rother, K. Joussen, J. Touchon, K. Kutlul, P. Praamstra, H. Sirin, S. Richard, C. Mariottu, L. Frattola, S. T. Dekesky, G. Wieneke, M. Chatel, O. Godefroy, C. Desnuelle, S. OzckmekÇi, C. H. Zielinski, P. van Deventer, S. Jozwiak, I. Galan, J. M. Grau, V. Vieira, T. A. Treves, S. Ertan, A. Pujol, S. Blecic, E. M. Zanette, F. Ceriani, W. Camu, L. Aquilone, A. Benomar, F. Greco, A. Pascual-Leone Pascual, T. Yanagihara, F. A. Delfino, R. Damels, S. Merkelbach, J. Beltran, A. Barrientos, S. Brugge, B. Hildebrandt-Müller, M. H. Nascimento, M. Rocchi, F. Cervantes, E. Castelli, R. M. Pressler, S. Yeil, A. del Olmo, J. L. Herranz, L. J. Kappelle, Y. Demir, N. Inoue, R. Hershkoviz, A. Luengo, S. Bien, F. Viallet, P. Malaspina, G. De Michele, G. Nolfe, P. Adeleine, T. Liehr, G. Fenelon, H. Masson, Kailash P. Bhatia, W. Haberbosch, S. Mederer, R. S. J. Frackowiak, Tanya Stojkovic, S. Previtali, A. E. Harding, W. Kohler, N. P. Quin, T. R. Marra, J. P. Moisan, A. Melchor, M. L. Viguera, Mary G. Sweeney, G. L. Romani, J. Hezel, R. A. Dierckx, R. Torta, A. Kratzer, T. Pauwels, D. Decoo, Adriana Campi, Neil Kitchen, J. Haas, U. Neubauer, J. J. Merland, A. Yagiz, A. Antonuzzo, A. Zangaladze, J. Parra, Pablo Martinez-Lage, D. J. Brooks, S. Hauser, R. Di Pierri, M. Campero, R. Caldarelli-Stefano, A. M. Colangelo, J. L. Pozo, C. Estol, F. Picard, A. Palmieri, J. Massons, JT Phillips, G. B. Groozman, R. Pentore, L. M. Ossege, C. Bayon, Hans-Peter Hartung, R. Konyalioglu, R. Lampis, D. Ancri, M. Miletta, F. J. Claramonte, W. Retz, F. Hentges, JM Cooper, M. Cordes, M. Limburg, M. Brock, G. R. Coulton, K. Helmke, Rosa Larumbe, A. Ohly, F. Landgraf, A. M. Drewes, Claudia Trenkwalder, M. Keidel, T. Segura, C. Scholz, J. HÄgele, D. Baudoin-Martin, P. Manganelli, J. Valdueza, M. Farinotti, U. Zwiener, M. P. Schiavalla, Y. P. Young, O. Barlas, G. Hertel, E. H. Weiss, M. Eiselt, A. Lossos, M. Bartoli, L. Krolicki, W. Villafana, W. Peterson, Nicoletta Meucci, C. Agbo, R. Luksch, F. Fiacco, G. Ponsot, M. Lopez, Howard L. Weiner, M. D. Alonso, K. Petry, Sanjay M. Sisodiya, P. Giustini, S. Tyrdal, R. Poupon, J. Blanke, P. Oubary, A. A. Kruize, H. Trabucchi, R. R. C. Stewart, H. Grehl, B. M. Kulig, V. Vinhas, D. Spagnoli, B. Mahe, J. Tatay, C. Hess, M. D. Albadalejo, G. Birbamer, M. Alonso, F. Valldeoriola, J. Figols, I. Wirguin, E. Diez Tejedor, C. S. Weiller, L.H. van den Berg, P. Barreiro, L. Pianese, S. Cocozza, R. Kohnen, E. Redolfi, F. Faralli, G. Gosztonyl, A. J. Gur, A. Keyser, V. Fichter-Gagnepain, B. Wildemann, E. Omodeo-Zorini, Gregoire, J. Schopohl, F. Fraschini, G. Wunderlich, B. Jakubowska, F. P. Serra, N. B. Jensen, O. Delattre, C. Leno, A. Dario, P. Grafe, F. Graus, M. C. Vigliani, J. L. Dobato, Philip N. Hawkins, R. Marés, A. Rimola, N. Meussi, G. Aimard, W. Hospers, A. M. Robertson, C. Kaplan, W. Lamadé, Karen E. Morrison, Amadio, E. Kieffer, F. Dromer, P. Bernasconi, M. Repeto, Davide Pareyson, Jeremy Rees, A. Guarneri, P. Odin, P. Bouche, L. Nogueira, J. Munoz, L. Leocani, M. J. Arcusa, R. S. J. Frackowiack, John S. Duncan, D. Karacostas, D. Edwin, I. Costa, M. Menetrey, P. Grieb, A. M. Salvan, S. Cunha, P. Merel, P. Pfeiffer, A. Astier, F. Federico, A. Mrabet, M. G. Buzzi, L. Knudsen, I. F. Pye, L. Falqui, C. R. Hornig, C. E. Shaw, C. Brigel, T. C. Britton, R. Codoceo, T. Pampols, Vincent J. Cunningham, N. Archidiacono, G. Chazot, J. B. Posner, L. L. O. Befalo, M. Monclus, C. Cabezas, H. Moser, H. Stodal, J. Ley-Pozo, L. Brusa, R. Di Mascio, P. Giannini, J. Fernandez, R. Santiago Luis, J. Garcia Tigera, J. Wilmink, P. Pignatelli, M. El Amrani, V. Lucivero, M. Baiget, R. Lodi, P. H. Cabre, L. Grande, A. Korczyn, R. Fahlbusch, C. Milanese, W. Huber, J. Susseve, H. C. Nahser, K. Mondrup, X. O. Breakefield, J. Sarria, T. H. Vogt, A. Alessandri, M. Daffertshofer, I. Nelson, M. L. Monticelli, O. Dammann, G. G. Farnarier, G. Felisari, A. Quattrini, A. Boiardi, P. Mazetti, H. Liu, J. Duarte, M. E. Gaunt, H. Strik, N. Yulug, A. Urman, J. Posner, Aida Suarez Gonzalez, Ma. L. Giros, Z. Matkovic, D. Kompf, A. D. Korczyn, A. Steinbrecher, R. Wenzel, M. C. de Rijk, R. Doronzo, J. Julien, O. Hasegawa, M. Kramer, V. Collado-Scidel, M. Alonso de Lecinana, L. Dell'Arciprete, S. Rapuzzi, S. Bahar, H. Willison, M. T. Ramacci, J.J. Martin, Lopez-Bresnahan, C. Malapani, R. Haaxma, T. Rosenberg, J. Patrignani, R. Vichi, Martin R. Farlow, J. Roquer, L. Krols, M. Pimenta, C. Bucka, U. Klose, M. Roberts, J. Salas-Puig, R. Ghnassia, A. Mercuri, C. Maltempo, I. Tournev, P. Homeyer, D. Caparros-Lefevre, E. P. O. Sullivan, T. Vashadze, Ph. Lyrer, A. Deltoro, H. Kondo, M. Steinling, A. Graham, G. C. Miescher, A. Pace, D. Branca, G. Avello, H. H. Kornhuber, D. Fernandes, H. Friedrich, R. Chorao, H. O. Lüders, R. T. Bax, J. A. Macias, N. Yilmaz, J. Veroust, M. Miller, S. Confort-Gouny, J. L. Sastre, D. Servello, G. Boysen, S. Koeppen, V. Planté-Bordeneuve, H. Albrecht, R. H. M. King, G. Orkodashili, R. Doornbos, H. Toyooka, V. Larrue, M. Sabatelli, K. Williams, M. Stevens, V. Maria, M. Comabella, C. Lammers, R. M. L. Poublon, E. Tizzano, P. Pazzaglia, F. Zoeller, M. B. Delisle, J. P. Goument, J. M. Minderhoud, A. Sghirlanzoni, V. Meininger, M. Al Deeb, C. Bertelt, A. Cagni, A. Algra, F. Morales, K. A. Flugel, M. Maidani, M. Noya, Z. Seidl, U. Roelcke, D. Cannata, E. 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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6. Variable number tandem repeat dopamine transporter gene polymorphism and Parkinson's disease: no association found

Author

G. Lucotte, J. C. Turpin, and G. Mercier

Subjects
Adult, Genetic Markers, Male, Population, Nerve Tissue Proteins, Minisatellite Repeats, Polymerase Chain Reaction, Tandem repeat, Genotype, Humans, Allele, education, Aged, Dopamine transporter, Genetic association, Genetics, Dopamine Plasma Membrane Transport Proteins, education.field_of_study, Membrane Glycoproteins, Polymorphism, Genetic, biology, Membrane Transport Proteins, Parkinson Disease, Middle Aged, Variable number tandem repeat, Neurology, biology.protein, Female, Neurology (clinical), Gene polymorphism, Carrier Proteins
Abstract

We studied a variable number of tandem repeat polymorphisms in the dopamine transporter gene in search of an association with Parkinson's disease in a French population. Five alleles were detected, consisting of 7, 8, 9, 10 and 11 copies of the 40-base pair repeat sequence, of which the 10-copy allele was the most common. There was no significant difference between the patients and the control subjects in the distribution frequencies of the alleles or genotypes, or in ages at onset in patients between the main allelic classes.

Published
1999
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7. [Neurological presentations of lysosomal diseases in adult patients]

Author

F, Sedel, J-C, Turpin, and N, Baumann

Subjects
Adult, Lysosomal Storage Diseases, Humans, Nervous System Diseases
Abstract

Lysosomal diseases represent a large group of genetic storage disorders characterized by a defect in the catabolism of complex molecules within the lysosome. Effective treatments are now possible for some of them given progresses in bone-marrow transplantation, enzyme replacement therapy and substrate reduction therapy. Neurologists and psychiatrists are concerned by these diseases because they can present in adolescence or adulthood with progressive neuropsychiatric signs. Here we focus on late-onset clinical forms which can be met in an adult neurology or psychiatric department. Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography.

Published
2007

8. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

Author

Johannes Berger, Volkmar Gieselmann, Helmut Rauschka, Timothy M. Cox, S. Tardieu, Eric LeGuern, Fahmy Aboul-Enein, H. Bernheimer, Hugo W. Moser, Benoit Colsch, Bernard Zalc, Nicole Baumann, William Krivit, Ron A. Wevers, U. Reuner, M. Lefevre, Manfred Schmidbauer, C. Olivier, Ann B. Moser, J. C. Turpin, M. Krammer, and Anna Tylki-Szymańska

Subjects
Adult, Male, medicine.medical_specialty, Arylsulfatase A, Adolescent, Genotype, Proline, Energy and redox metabolism [NCMLS 4], Neural Conduction, Late onset, Biology, Neuroinformatics [DCN 3], Compound heterozygosity, Statistics, Nonparametric, Central nervous system disease, Degenerative disease, Leucine, Internal medicine, medicine, Perception and Action [DCN 1], Humans, Isoleucine, Child, Cerebroside-Sulfatase, Cerebellar ataxia, Genetic heterogeneity, Electroencephalography, Leukodystrophy, Metachromatic, Glycostation disorders [IGMD 4], medicine.disease, Magnetic Resonance Imaging, Neuromuscular development and genetic disorders [UMCN 3.1], Metachromatic leukodystrophy, Endocrinology, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation, Female, Neurology (clinical), medicine.symptom
Abstract

Contains fulltext : 49461.pdf (Publisher’s version ) (Closed access) BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE: To search for genotype-phenotype correlations in late-onset MLD. METHODS: The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients heterozygous for mutation I179S, in which the second arylsulfatase A (ASA) mutation had also been determined. RESULTS: P426L homozygotes principally presented with progressive gait disturbance caused by spastic paraparesis or cerebellar ataxia; mental disturbance was absent or insignificant at the onset of disease but became more apparent as the disease evolved. In contrast, compound heterozygotes for I179S presented with schizophrenia-like behavioral abnormalities, social dysfunction, and mental decline, but motor deficits were scarce. Reduced peripheral nerve conduction velocities and less residual ASA activity were present in P426L homozygotes vs I179S heterozygotes. CONCLUSION: The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.

Published
2006

9. [Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult]

Author

L, Tyvaert, T, Stojkovic, J-M, Cuisset, M-T, Vanier, J-C, Turpin, J, De Sèze, and P, Vermersch

Subjects
Adult, Niemann-Pick Diseases, Liver Function Tests, Mental Disorders, Schizophrenia, Humans, Female, Filipin, Fibroblasts, Magnetic Resonance Imaging, Anti-Bacterial Agents
Abstract

Niemann-Pick Type C disease (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder.A 31-year-old right-handed woman had suffered from schizophrenia for 13 years. At 25 years of age, she developed a gait disorder with a static and kinetic cerebellar syndrome, dysarthria, vertical supranuclear gaze palsy and cognitive impairment. Brain MRI was normal. Abdominal ultrasonography was performed because of hypercholesterolemia and elevated transaminases and revealed hepatosplenomegaly, which in conjunction with other signs and symptoms, suggested the diagnosis of NPC. The diagnosis was confirmed by demonstration of lysosomal storage of unesterified cholesterol (filipin staining) and of a reduced rate of LDL-induced cholesterol esterification. Implication of the NPC1 gene was assessed by genetic complementation analysis.The phenotypic presentation of NPC is remarkably variable. The rarer adult-onset form has a slowly progressive course. Psychotic manifestations are often prominent and may precede neurologic symptoms. Exposure to neuroleptics delays the diagnosis of NPC.Psychotic manifestations associated with cerebellar syndrome, vertical supranuclear gaze palsy, and splenomegaly are very suggestive of NPC disease which can be reliably diagnosed on cultured skin fibroblasts by filipin staining.

Published
2005

10. [Presenting psychiatric and cognitive disorders in adult neurolipidoses]

Author

J-C, Turpin and N, Baumann

Subjects
Adult, Male, Niemann-Pick Diseases, Adolescent, Mental Disorders, Humans, Female, Cognition Disorders, Severity of Illness Index
Abstract

Neurolipidoses may present as psychiatric illness or dementia which may be isolated for a long time without neurological manifestations. Thus the relation with a metabolic disease may be difficult to establish. In this survey, we wish to present our clinical and biological experience in relation with lysosomal or peroxisomal disorders giving rise to neurolipidoses, a review of the literature, as well as the elements which allow to present a diagnostic strategy. We report mainly on metachromatic leukodystrophy, GM2 gangliosidosis, Fabry's disease, Niemann-Pick type C, Kufs disease, adrenoleukodystrophy, cerebro-tendinous xanthomatosis. Psychiatric symptoms may overshadow subtle signs of cognitive and motor dysfunction. Careful and persistent neurodiagnostic evaluation must be performed even in cases when CT and MRI scans are considered normal. Resistance to psychotropic drugs may be an element of orientation. The biological diagnosis is mainly biochemical. Although most of the genes involved have been cloned, many of the mutations are private, except for metachromatic leukodystrophy for which specific mutations may be related to adult cases and either with predominantly motor or predominantly cognitive and psychiatric manifestations. This review discusses also other metabolic diseases which may present as isolated or predominant cognitive and psychiatric manifestations.

Published
2003

11. Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood

Author

S. Van Weely, M. Lefevre, Nicole Baumann, Bertrand Fontaine, H. Hosseini, H. Aerts, J. C. Turpin, Other departments, and Faculteit der Geneeskunde

Subjects
medicine.medical_specialty, Pediatrics, business.industry, Hepatosplenomegaly, Disease, Glucocerebroside, medicine.disease, Pancytopenia, Central nervous system disease, Psychiatry and Mental health, Peripheral neuropathy, Endocrinology, Gaucher's disease, Internal medicine, medicine, Surgery, Neurology (clinical), medicine.symptom, Letters to the Editor, business, Glucocerebrosidase
Abstract

Gaucher's disease1 is caused by a deficiency in glucocerebrosidase which gives rise to the accumulation of glucosylceramide (glucocerebroside) in the lysosomes of cells mainly found in the reticuloendothelial system. Type 1, the chronic adult form, is the most frequent, and characterised by splenomegaly, hepatomegaly, pancytopenia, and skeletal degeneration, but does not involve neurological manifestations. Type 2, also called acute neuronopathic, is an early infantile form, usually terminating life in 1 or 2 years. Type 3 is a chronic form which affects the nervous system, usually in late childhood or adolescence. We report here the case of a patient with Gaucher's disease who was diagnosed in early infancy (6 months) in a paediatric institution. He was followed up again between the ages of 26 and 34, a period during which he benefited from enzyme substitutive therapy. This male patient had no familial history of Gaucher's disease. Pregnancy and birth were normal. At 6 months, he presented with dysfunction of ocular motility in the vertical gaze, oculocephalic asynergy, hepatosplenomegaly, and was found to carry Gaucher's cells in his bone marrow. Abnormal gait and pyramidal signs followed around 4 years of age. There was a macular cherry red spot. Acid phosphatases were increased at that age. Nevertheless, there were no abnormalities of staturoponderal milestones and no cognitive dysfunction. He went to school until the age of 16. Mutation analysis of the glucocerebrosidase (GC) gene. Father (lane 1); mother (lane 2); patient (lane 3). Genomic DNA was isolated from leucocytes and the GC mutations were performed by restriction enzyme digestions on polymerase chain reaction amplification of genomic DNA exactly as described by Boot et al4. The upper panel shows the analysis of the …

Published
2001

12. Lack of mutation G209A in the alpha-synuclein gene in French patients with familial and sporadic Parkinson's disease

Author

J. C. Turpin, G. Mercier, and G. Lucotte

Subjects
Adult, Male, Periodicity, Sequence analysis, Synucleins, Nerve Tissue Proteins, Biology, Exon, Genetic linkage, Missense mutation, Humans, Point Mutation, Letters to the Editor, Gene, Aged, Genetics, Aged, 80 and over, Point mutation, Parkinson Disease, Middle Aged, Phosphoproteins, Psychiatry and Mental health, Mutation (genetic algorithm), Chromosomal region, alpha-Synuclein, Surgery, Female, Neurology (clinical), France
Abstract

Polymeropoulos et al described the genetic linkage of a large Italian Parkinson’s disease pedigree (Contursi) to chromosome 4q21-q231; more recently the sequence of the α-synuclein gene located in this chromosomal region in affected patients from this kindred disclosed that most of the affected members were heterozygous for a missense mutation (alanine→threonine) at position 53 of the protein.2 This same missense mutation was also found in three additional unrelated families of Greek origin with Parkinson’s disease. The mutation was found by DNA sequence analysis of the fourth exon of the α-synuclein gene, disclosing a single base pair change at position 209 from G to A (G209A), and creating a novel Tsp …

Published
1998

13. [Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset]

Author

P, Rondot, R, Navon, B, Eymard, M, Fardeau, J C, Turpin, M, Lefevre, N, Bathien, Y, Wu, and N, Baumann

Subjects
Adult, Male, Muscular Atrophy, Spinal, Heterozygote, Hexosaminidase A, Mutation, Genetic Variation, Humans, Female, Sandhoff Disease, beta-N-Acetylhexosaminidases
Abstract

GM2 gangliosidosis are caused by a beta-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity. We report three cases which have been considered for some time as Kugelberg-Welander disease. beta-hexosaminidase A was determined with the sulfated synthetic substrate, 4-méthylumbelliferyl-N-acetylglucosamine 6-sulfate (4-MUGS), which allowed the diagnosis. Two of these cases from one family had normal values of hexosaminidase A in serum as found in the B1 variant. Compound mutations were detected. The B1 variants had a classical B1 mutation (G533--A) and a new mutation located on exon 11. The patient of the second family had the classical mutation of adult GM2 gangliosidosis (Gly269--Ser) and a new mutation on exon 1, at the initiation codon.

Published
1997

14. Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families

Author

G, Lucotte, S, Berriche, F, David, C, Bathelier, and J C, Turpin

Subjects
Adult, Genetic Markers, Male, Genome, Trinucleotide Repeats, Friedreich Ataxia, Humans, Female, France, Chromosomes, Human, Pair 9, Pedigree
Abstract

We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.

Published
1997

16. Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families

Author

G, Lucotte, J C, Turpin, N, Gérard, S, Panserat, and R, Krishnamoorthy

Subjects
Male, Genotype, Parkinson Disease, Polymerase Chain Reaction, Pedigree, Phenotype, Cytochrome P-450 CYP2D6, Reference Values, Risk Factors, Mutation, Confidence Intervals, Humans, Family, Female, Polymorphism, Restriction Fragment Length, Aged
Abstract

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.

Published
1996

17. Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

Author

F Loirat, Jörg T. Epplen, J C Turpin, I Siedlaczk, S Hazout, Gérard Lucotte, and Olaf Riess

Subjects
Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Repetitive Sequences, Disease, Biology, Long arm, Gastroenterology, Huntington's disease, Internal medicine, mental disorders, Genetics, medicine, Confidence Intervals, Humans, Metabolic disease, Age of Onset, Genetics (clinical), Aged, Repetitive Sequences, Nucleic Acid, Middle Aged, medicine.disease, Confidence interval, nervous system diseases, Huntington Disease, Age of onset, Trinucleotide repeat expansion
Abstract

A highly significant relationship between length of trinucleotide repeat and age of onset is shown for Huntington's disease.

Published
1995

18. [Fibrodysplasia ossificans progressiva. Apropos of a case]

Author

E, Katti, R, Seringe, A, Gordji, and J C, Turpin

Subjects
Male, Radiography, Bone Diseases, Developmental, Consanguinity, Adolescent, Myositis Ossificans, Scoliosis, Humans, Kyphosis, Child, Prognosis, Respiratory Insufficiency
Abstract

Fibro-dysplasia ossificans progressive is a rare inherited disease, presumably transmitted as an autosomal dominant defect. The high level of spontaneous mutations explains the sporadic cases. Pre symptomatic diagnosis could be actually evoked by the association of progressive ossification of soft tissues with congenital anomalies of bones (metacarpal and metatarsal). The purpose of this study is to report a clinical case with a very severe course.A 10-year-old boy developed progressive ossification of muscles and soft tissues in multiple sites neck, back, shoulders, elbows, hips and knees. The clinical course was severe due to the ankylosis of all the joints and the decrease of pulmonary reserve with fixation of the chest wall. A malformation of the great toes facilitated the diagnosis.This pattern of heterotopic ossification together with the congenital malformations of the great toes defines the developmental phenotype for fibrodysplasia ossificans. A slow course with successive thrusts occurs. Ossification progressively involves tendons, ligaments and the connective tissue of skeletal muscles. Excision of heterotopic bone is futile as the trauma of the operation can lead to the stimulation of new heterotopic ossification at the operative site. Surgery is only useful for biopsy and histological study reveals bone metaplasia. The mature heterotopic bone is histologically indistinguishable from mature skeletal bone. The non skeletic muscles are characteristically spared from ossification. Premature death often results from respiratory failure due to fixation of the thoracic cage. The pathogenesis and the treatment of the disorder are unknown.

Published
1995

19. Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France

Author

G, Lucotte, S, Berriche, C, Bathelier, J C, Turpin, P, Jacob, J M, Paquet, M, Pluot, and A, Vandenberghe

Subjects
Chromosome Aberrations, Male, Blotting, Southern, Consanguinity, Charcot-Marie-Tooth Disease, Humans, Chromosome Disorders, Female, France, DNA Probes, Chromosomes, Human, Pair 17, Genes, Dominant, Pedigree
Abstract

Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigree from France: We collected 15 Charcot-Marie-Tooth (CMT) pedigrees from France. DNA polymorphisms analysis by Southern blotting with probes at the D17S122 locus demonstrated 17p duplication in three CMT1a families and in one sporadic case. Two families affected by CMT2 showed no evidence of the duplication.

Published
1995

21. Trinucleotide repeat elongation in the huntingtin gene in Huntington's disease patients from 85 French families. The French HD Research Group

Author

G, Lucotte, A, Aouizérate, O, Loreille, N, Gérard, and J C, Turpin

Subjects
Adult, Male, Huntingtin Protein, Base Sequence, Models, Genetic, Genetic Carrier Screening, Chromosome Mapping, Nuclear Proteins, Nerve Tissue Proteins, DNA, Middle Aged, Polymerase Chain Reaction, Humans, Female, France, Repetitive Sequences, Nucleic Acid
Abstract

IT15 is a new gene encoding a protein named huntingtin; a polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to Huntington's disease (HD). We have investigated the CAG repeat in the huntingtin gene in 85 unrelated French families with Huntington's disease. In 79 patients (from 60 families, where at least one HD DNA was available) we found repeat lengths of 37 to 100 units, in contrast to 11 to 35 CAG's on normal chromosomes. Comparison of repeat length and age at onset of disease symptoms in 71 individuals confirms an inverse correlation (r = -0.51 for p10(-4)) between the age at onset and the number of CAG repeat units.

Published
1994

22. Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family

Author

G, Lucotte, S, Berriche, F, David, M, Mariotti, and J C, Turpin

Subjects
Adult, Genetic Markers, Polymorphism, Genetic, Cardiotocography, Genetic Linkage, Infant, Newborn, Genetic Counseling, Pedigree, Phenotype, Chorionic Villi Sampling, Pregnancy, Prenatal Diagnosis, Humans, Myotonic Dystrophy, Apolipoprotein C-II, Female, Apolipoproteins C, DNA Probes, Retrospective Studies
Abstract

The results of DNA analysis for the unstable CTG repeat are reported in a french family of myotonic dystrophy. This retrospective study confirms results obtained previously with a linked DNA marker, using the CTG repeat DNA sequence in the same family. The demonstrated possibility of predicting phenotype as well as genotype in prenatal diagnosis is important for such a disorder, were subjects may be severely affected.

Published
1994

23. [Adrenoleukomyeloneuropathy presenting as a mental disorder]

Author

J C, Turpin and J C, Gross

Subjects
Adult, Diagnosis, Differential, Male, Psychiatric Status Rating Scales, Schizophrenia, Brain, Humans, Atrophy, Adrenoleukodystrophy, Magnetic Resonance Imaging, Severity of Illness Index, Pedigree
Abstract

Troubles of cognitive functions are generally observed in the X-linked adrenoleucodystrophy. This disease can be revealed at late onset (adrenomyeloneuropathy) or contemporary of the demyelinisation in central nervous system (adrenoleucodystrophy). Cerebral variants with only psychic involvement remain uncommon, the lesions are located in the temporo-parieto-occipital areas. The diagnosis occurs by biological investigations and/or the familial history before any defect of neurological signs. Therapeutics hopes in this storage disorder lay by the earlier diagnosis. In this way, we found interest to investigate the adult forms.

Published
1993

24. [Inborn and induced lipidosis. Differential diagnosis]

Author

J C, Turpin and G, Dubois

Subjects
Adult, Diagnosis, Differential, Male, Sphingomyelin Phosphodiesterase, Iatrogenic Disease, Humans, Lipidoses, Antipsychotic Agents, Sphingomyelins
Abstract

The drugs used for the treatment of psychiatric disorders sometimes produce neurological symptoms (drug-induced lipidosis) similar to those found in subjects with genetic disorders of lipid metabolism. We report the case of a young man with Niemann-Pick disease first treated for behavioural disorders. As the family accused the Medical Department to be responsible for a disease caused by excess of medication, a detailed study of the patient's biochemical features was used to refute the complaint.

Published
1993

25. A recombinant Friedreich's ataxia family

Author

S. Berriche, G. Lucotte, and J. C. Turpin

Subjects
Genetics, Male, Recombination, Genetic, Ataxia, Biology, medicine.disease, Molecular medicine, Human genetics, Chromosomal crossover, law.invention, Pedigree, Degenerative disease, law, Friedreich Ataxia, medicine, Recombinant DNA, Humans, Female, Allele, medicine.symptom, Restriction fragment length polymorphism, Genetics (clinical)
Published
1993

26. A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family

Author

M D Benson, J C Turpin, G Lucotte, S Zeldenrust, and B LeChevalier

Subjects
Proband, Adult, DNA Mutational Analysis, Molecular Sequence Data, Biology, Polymerase Chain Reaction, chemistry.chemical_compound, Exon, Genetics, Humans, Prealbumin, Amino Acid Sequence, Allele, Genetics (clinical), Base Sequence, Genetic Variation, Peripheral Nervous System Diseases, Amyloidosis, DNA, Molecular biology, Pedigree, Restriction enzyme, Transthyretin, chemistry, biology.protein, Female, Restriction fragment length polymorphism, Primer (molecular biology), Cytosine, Polymorphism, Restriction Fragment Length, Research Article
Abstract

A transthyretin (TTR) mutation is described in a 44 year old French woman from Caen who presented at the age of 40 with neuropathy in all four extremities, diarrhoea, and orthostatic hypotension. Her father died with a similar syndrome including vitreous opacities. A nerve biopsy from the proband showed amyloid deposits which stained with anti-transthyretin. Direct genomic DNA sequencing of TTR exon 3 showed both thymine and cytosine in the position corresponding to the second base of codon 71. This codes for a variant alanine (GCG) as well as the normal valine (GTG), indicating that the proband is heterozygous for the substitution. Since this substitution does not result in the creation or abolition of a restriction endonuclease recognition site, a new technique (PCR-IMRA) was used to create an RFLP. Using a 24 bp nucleotide mutagenesis primer in the PCR reaction, a new NspBII site is created on amplification of the variant allele. With this method a 170 bp TTR exon 3 PCR product was generated for both the normal and the variant allele. On digestion of the PCR product with NspBII, DNA from a heterozygous subject showed both the 170 bp undigested product from the normal allele and a 146 bp digestion product from the variant allele. By PCR-IMRA, two of five children of the proband were positive for the variant allele. This non-radioactive technique gives a rapid method for testing subjects at risk for this mutation.

Published
1993

27. [Huntington chorea in children]

Author

J C, Turpin

Subjects
Male, Huntington Disease, Child, Preschool, Age Factors, Humans, Female, Pedigree
Abstract

The onset of Huntington's disease, a dominantly inherited degeneration of the basal ganglia, usually occurs in middle age; cases of childhood onset are rare.Case 1. A boy from a family including several cases of Huntington's disease gradually developed behavior disorders from the age of 5 years. He had learning and language disorders at 7 years of age and at 11 years he suffered from generalized seizures and progressive rigidity. The disease led to dementia at 17 years and the patient died a few months later. CT scan showed diffuse cortical atrophy. Case 2. A girl aged 5 years, was first examined for gait disorders. At that time she had dystonia and spasticity. Rigidity gradually developed, and 2 months later several cases of Huntington's disease were identified in her father's family. Case 3. A boy developed gait disorders from the age of 5 years. He gradually developed dystonia, rigidity, learning disorders, and finally mental retardation. The CT scan showed cortical atrophy and atrophy of the caudate nucleus. His father and others members of the paternal family had Huntington's disease that appeared in the adulthood.The clinical manifestations of Huntington's disease in childhood are different from those seen in adults. Progressive alteration of mental development and dementia can occur. Diagnosis may be difficult except when a parent has the fully developed disease.

Published
1993

28. Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France

Author

G, Lucotte, S, Berriche, F, David, H, Rouquet, and J C, Turpin

Subjects
Chromosome Aberrations, Portugal, Chromosome Disorders, Amyloid Neuropathies, Polymerase Chain Reaction, Chorionic Villi Sampling, Pregnancy, Prenatal Diagnosis, Mutation, Humans, Prealbumin, Female, France, Genes, Dominant
Abstract

Portuguese type amyloidosis is an autosomal dominant condition caused by a mutation in the transthyretin gene. This mutation can be detected directly by the presence of a restriction site for NsiI. We report here our first prenatal diagnosis for this condition performed by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.

Published
1993

29. [Evaluation of the prevalence of side effects of phenobarbital in patients in the Champagne-Ardenne region]

Author

N, Delasnerie-Lauprêtre and J C, Turpin

Subjects
Adult, Male, Epilepsy, Middle Aged, Gingivitis, Risk Factors, Phenobarbital, Rheumatic Diseases, Prevalence, Humans, Anticonvulsants, Female, France, Sleep Stages, Retrospective Studies
Abstract

Side effects were compared in 454 patients under phenobarbital and in 133 patients under other antiepileptic agents. Prevalence of adverse effects was 12% and 4% in these two groups, respectively. The fairly low prevalence of untoward reactions to phenobarbital in this study as compared with previously published reports is due to the methodology used. Despite unquestionable drawbacks, especially in patients above 50 years of age at first use, phenobarbital is a valuable therapeutic alternative in some cases.

Published
1991

30. [Assays of arylsulfatase activity in psychotic patients. Review of the literature and results of a study of 22 patients]

Author

M, Lejoyeux, G, Dubois, J C, Turpin, N, Baumann, and T, Lempérière

Subjects
Adult, Male, Schizophrenia, Paranoid, Psychotic Disorders, Schizophrenia, Disorganized, Leukocytes, Humans, Female, Middle Aged, Aged, Arylsulfatases
Abstract

After a clinical and biological description of arylsulfatase A and metachromatic leucodystrophy, we present the results of a study of leucocyte arylsulfatase A in a population of 22 adult psychotic inpatients. The patients, clinically defined, filled the criteria of DSM III of schizophrenic disorders. All of them were treated by neuroleptics. None of these 22 patients showed a level of arylsulfatase A different from the range of 27 healthy adult controls. These results differ from those of most precedent studies of arylsulfatase A in "psychiatric populations". Some explanations of this difference are suggested. The concept of "purely psychiatric" form of adult metachromatic leucodystrophy is discussed.

Published
1991

31. [Type C Niemann-Pick disease: supranuclear ophthalmoplegia associated with deficient biosynthesis of cholesterol esters]

Author

J C, Turpin, J Y, Goas, M, Masson, F, Zagnoli, Y, Mocquard, and N, Baumann

Subjects
Niemann-Pick Diseases, Cholesterol, Ophthalmoplegia, Time Factors, Adolescent, Humans, Female, Cholesterol Esters, Pedigree
Abstract

We report a familial case of Niemann-Pick disease type C which lasted until adulthood, and which had the characteristic deficiency in cholesterol esterification from exogenous cholesterol. A review of the literature was performed concerning cases which were seen in adults and were characterized biochemically. This study showed the frequency of supranuclear ophthalmoplegia affecting essentially vertical movements and convergence and of lipid-laden cells in bone marrow which are often sea-blue histiocytes.

Published
1991

32. [Use of polymorphous DNA probes in the study of French families with Huntington's chorea]

Author

G, Lucotte, S, Berriche, A, Burckel, and J C, Turpin

Subjects
Genomic Library, Heterozygote, Huntington Disease, Haplotypes, Risk Factors, Humans, France, DNA Probes, Polymorphism, Restriction Fragment Length, Pedigree
Abstract

Huntington disease (HD) is a neurodegenerative disorder caused by an autosomal dominantly inherited defect. The discovery of DNA polymorphisms genetically linked to the HD locus provided the possibility of an early presymptomatic test. The first marker locus described (G-8) had an approximately 5% recombination rate with the HD locus, and the subsequent discovery of some more tightly linked marker loci, notably D 495, has greatly improved the accuracy of presymptomatic testing. We describe here the preliminary results obtained and the difficulties encountered in a French predictive testing program on presymptomatic subjects belonging to choreic families.

Published
1990

33. Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders

Author

Jean-Jacques Hauw, J M Mussini, G Dubois, J C Turpin, J L Kemeny, J Battesti, J C Mazière, M Auclair, and J. M. Boutry

Subjects
Adult, Male, medicine.medical_specialty, Psychosis, Disease, Sphingomyelin phosphodiesterase, chemistry.chemical_compound, hemic and lymphatic diseases, Internal medicine, Biopsy, Leukocytes, Medicine, Humans, Psychiatry, Subclinical infection, Niemann-Pick Diseases, medicine.diagnostic_test, business.industry, Cholesterol, Phosphoric Diester Hydrolases, nutritional and metabolic diseases, Fibroblasts, medicine.disease, Endocrinology, Sphingomyelin Phosphodiesterase, chemistry, Psychotic Disorders, Chronic Disease, lipids (amino acids, peptides, and proteins), Neurology (clinical), Acid sphingomyelinase, business, Niemann–Pick disease, Bronchoalveolar Lavage Fluid, medicine.drug
Abstract

We studied 2 unrelated adult patients under neuroleptic treatment who met all phenotypic and biochemical criteria for Niemann-Pick disease type B. In addition, they had chronic psychiatric disorders and low blood levels of HDL cholesterol. The marked and persistent deficiency of acid sphingomyelinase and the disturbance of sphingomyelin metabolism in skin fibroblast subcultures ruled out a pure drug-induced lipidosis. The association of Niemann-Pick disease type B with psychiatric disorders and with low levels of HDL cholesterol could be a chance association of 2 diseases, a new phenotype of Niemann-Pick type B, or the revelation by the neuroleptic treatment of a subclinical inborn sphingomyelinase deficiency.

Published
1990

34. Methyl Bromide Intoxication During Grain Store Fumigation

Author

J. C. Turpin and Frédéric Deschamps

Subjects
Adult, Male, medicine.medical_specialty, business.product_category, Fumigation, chemistry.chemical_compound, Bromide poisoning, BROMIDE INTOXICATION, Neurological Damage, Bromide, Occupational Exposure, medicine, Humans, Respiratory Protective Devices, Respirator, business.industry, Public Health, Environmental and Occupational Health, Middle Aged, Hydrocarbons, Brominated, Surgery, Activated charcoal, chemistry, Toxicity, Edible Grain, business
Abstract

There have been over 300 cases of methyl bromide poisoning reported in the literature. The first objective of this case report was to bring out an experience with the false belief that work in a closed space is safe when accompanied by the use of a cartridge respirator with activated charcoal. The second objective of this article was to demonstrate the marked toxicity of methyl bromide with the potential to cause long-term neurological damage. Two experienced fumigation workers (equipped with rapidly saturable respiratory cartridges) entered a building where the concentration of methyl bromide was 17g x m -3 instead of the advised 20mg x m -3 . They felt rapidly unwell and complained of nausea and shortness of breath, followed for one them by generalized convulsions. Five months later this last man was still bedridden. The other worker had almost no after-effects. The highest bromide level was found in the blood and also in the activated charcoal cartridge of the most injured worker. There was a relationship between methyl bromide level exposure and neurological damage importance.

Published
1996
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37. [Iconographic rubric. Diplomyelia]

Author

E, Questiaux, Z, Joannides, O, Bacques, J C, Turpin, and J P, Fournet

Subjects
Spinal Cord, Child, Preschool, Humans, Urography
Published
1982

38. [Adult disclosure of a case of familial adrenoleukodystrophy]

Author

J C, Turpin, M, Paturneau-Jouas, C, Sereni, M, Pluot, and N, Baumann

Subjects
Adult, Male, Fatty Acids, Humans, Peripheral Nervous System Diseases, Diffuse Cerebral Sclerosis of Schilder, Adrenoleukodystrophy, Adrenal Insufficiency
Abstract

We report a case of adult adrenoleukodystrophy. The patient, originating from North Africa, had no clinical history until age 23. The first disorder, a spastic paraparesis, occurred after a 5 days coma following a cranial traumatism. The course of the disease was then progressive remitting and the patient died at age 30. Total duration was 7 years. The diagnosis of A.L.D. was ascertained by the determination of excessive very long chain fatty acid level in plasma. Endocrinological study revealed adrenal insufficiency but darkening of the skin was masked by racial pigmentation. The patient was the oldest of 10 children. 3 of the brothers died of childhood A.L.D. around the age of 12 after a progressive 2 years course. The mother and 2 asymptomatic brothers have increased plasma levels of hexacosanoic acid and A.C.T.H. The particularity of this adult case is the lack of spinal demyelination. Pathological studies revealed a widespread cerebral demyelination with an inflammatory process. The features of this case are compared to those of the 13 other reported cases of adult A.L.D.

Published
1985

39. [Evaluation of the degree of malignancy of human gliomas by means of the determination of their GFA content (author's transl)]

Author

C, Jacque, J C, Turpin, M, Kujas, and N, Baumann

Subjects
Adult, Male, Adolescent, Brain Neoplasms, Infant, Nerve Tissue Proteins, Glioma, Middle Aged, Prognosis, Astrocytes, Child, Preschool, Glial Fibrillary Acidic Protein, Humans, Female, Child, Aged
Abstract

The quantitative immunochemical determination of the GFA protein in a large number of brain tumors has shown a correlation between the malignancy of a glioma and its content in GFA. This dosage should help to establish the diagnosis, in addition to routine histological examinations. Its prognostic interest is currently debated.

Published
1981

40. Mutations in mice affecting brain development and their correlations with human diseases

Author

F. Lachapelle, N. Baumann, and J.-C. Turpin

Subjects
Nervous system, Fetus, medicine.anatomical_structure, Brain development, Purkinje cell, medicine, Geneticist, Biology, Audiogenic seizure, Neuroscience
Abstract

In the human, many genetic diseases of brain development are manifest during the last trimester of fetal life and the first postnatal year, when glial multiplication and myelination, outgrowth of dendrites and axons, and establishment of neuronal connections occur. Mice appear to be particu- larly useful for studying hereditary inborn errors of brain metabolism and differentiation. In mice, these processes occur postnatally during a short span of the animal’s life. About a hundred mutations have been identified involving the nervous system or the sensory organs (see References 1–4 for reviews). For many years, they have interested only the geneticist, but since the pioneer work of Sidman and colleagues, they have become an increasingly valuable tool as genetically derived pathology in mice may have clinical analogues in man. Some of these mutations are clearly identical or closely related to human genetic diseases, others could possibly act as models for as yet undetected human disorders as there are many similarities in the genetic constitutions of mice and man.

Published
1982
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41. [Carbon monoxide poisoning of the fetus. Apropos of a clinico-pathological case]

Author

J C, Turpin, R, Escourolle, F, Gray, J P, Fournet, H, Castaing, and M C, Dupard

Subjects
Adult, Male, Carbon Monoxide, Carbon Monoxide Poisoning, Fetal Diseases, Fetus, Pregnancy, Infant, Newborn, Brain, Humans, Female, Maternal-Fetal Exchange
Abstract

Anatomical and clinical observations are described in a case of carbon monoxide poisoning which caused the death of the baby rapidly. The anatomical lesions are comparable to those observed in 8 other cases reported in the literature. The physiopathological mechanism involved is discussed in relation to previously reported clinical, toxicological, and experimental data.

Published
1978

42. [Iconographic rubric. Fahr's disease]

Author

J C, Turpin, L, Kremp, G, Schreuer, and S, Alliot

Subjects
Brain Diseases, Metabolic, Calcinosis, Humans, Female, Child, Tomography, X-Ray Computed
Published
1984

43. [Familial predisposition to multiple sclerosis]

Author

J C, Turpin, D, Dubois, and N, Delasnerie-Laupretre

Subjects
Adult, Male, Multiple Sclerosis, Adolescent, Genetic Linkage, HLA-DR Antigens, Middle Aged, Prognosis, Autoimmune Diseases, Pedigree, Haplotypes, HLA Antigens, Humans, Female, Disease Susceptibility, Alleles
Abstract

Seven families were studied to evaluate the influence of genetic factors in MS and its transmissibility. The disease was associated with some B7 and/or DR2 alleles in relation to the susceptibility gene in all but one case. This association was always transmissible conjointly. The carrier haplotype conditions disease manifestations and its prognosis, favorable in this series, but it is not sufficient to promote the onset of the disease. This requires a triggering factor with sometimes disorders affecting 3 generations as demonstrated by the analysis of one family. Therefore there is not a genic heredity but a predisposition heredity. Possible associations of MS with other morbid states such as insulin-dependent diabetes must be considered when counselling families.

Published
1986

44. [Antenatal microcephaly. A contribution of ultrasound. Twelve cases (author's transl)]

Author

S, Sejean, J C, Turpin, M C, Quarre, and M, Tournaire

Subjects
Adult, Pregnancy, Prenatal Diagnosis, Infant, Newborn, Microcephaly, Humans, Female, Ultrasonography
Abstract

It is necessary to think about the frequency of mistakes made at term as well as about the rare case of antenatal microcephaly when confronted with an abnormally small biparietal diameter. The authors, when confronted on twelve occasions with the problem of antenatal microcephaly, classified two situations: the discovery from systematic screening of a break in the growth of the cranial diameters. In the case of overall growth retardation of the fetus it becomes necessary to carryout amniocentesis to look for associated chromosome abnormality (two out of twelve cases); ultrasound monitoring of a pregnancy in the woman who has previously delivered a microcephalic infant in order to diagnose a possible recurrence of the condition (three out of the twelve cases). Furthermore the authors point out tha there are limits to the method. Ultrasound is only a complementary examination and the results obtained should be studied critically, confirmed by repeated examinations and integrate into the whole clinical picture. Finally, it is not always possible to differentiate between the normal and the abnormal by ultrasound. In borderline cases ultrasound has the advantage that it can point out the need for extra careful post-natal examination of the infant.

Published
1981

45. [Present data of Fahr's syndrome. Report of two cases of idiopathic strio-pallido-dentate calcifications revealed by computerized tomography (author's transl)]

Author

B, Tafani, G, Boudouresques, J C, Turpin, and R, Khalil

Subjects
Adult, Male, Brain Diseases, Calcinosis, Humans, Syndrome, Middle Aged, Tomography, X-Ray Computed
Abstract

The authors report two computed tomographic observations of Fahr's disease without disturbances in calcium-phosphorus metabolism; the first case is a by chance discovery and the second one is characterized by a cerebellar tremor. From the literature data they discuss successively clinical, radiological and computed tomographic, neuropathological, aetiopathogenetic and therapeutic aspects actually presented by strio-pallido-dentate calcifications (SPD) or Fahr's disease.

Published
1981

46. Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls

Author

G, Dubois, J C, Turpin, M C, Georges, and N, Baumann

Subjects
Adult, Heterozygote, Adolescent, Chondro-4-Sulfatase, Child, Preschool, Leukocytes, Humans, Infant, Leukodystrophy, Metachromatic, Sulfatases, Child, Cerebroside-Sulfatase
Abstract

We report a statistical study on the level of aryl-sulfatases A and B in leukocytes of 106 controls, 19 cases of metachromatic leukodystrophy (MLD) infantile and juvenile forms and 25 obligate heterozygotes for MLD. Arylsulfatase A has been found to be similarly deficient in patients of the two forms. Half of the mean of the controls have been found in both types for heterozygotes. Arylsulfatase B (ASB) is slightly higher than normal in late infantile MLD although it is not statistically significant. In the 5 cases of the juvenile forms that were examined, ASB was found to be significantly reduced. This enzyme may play a role in relation to the onset of the disease.

Published
1980

48. [Amyotrophic paralysis of the shoulder]

Author

J C, Turpin and J, Delpech

Subjects
Male, Infant, Newborn, Infant, Nerve Regeneration, Paresis, Child, Preschool, Birth Injuries, Brachial Plexus Neuritis, Humans, Paralysis, Brachial Plexus, Female, Child, Muscle, Skeletal, Follow-Up Studies
Published
1977

49. [Myotonic dystrophy severity (Steinert's disease) (author's transl)]

Author

J C, Turpin and J, Morice

Subjects
Adult, Male, Adolescent, Electromyography, Infant, Newborn, Middle Aged, Pedigree, Esophagus, Intellectual Disability, Humans, Myotonic Dystrophy, Pharynx, Female, Child, Respiratory Insufficiency, Aged
Abstract

Four family cases of Steinert, myodystrophy are reported. The severity of the early onset form is specially noted. This form presents pulmonary complications and mental deficit. The influence of the myodystrophy on the pregnancy is discussed and an explanation of the disturbance of the oesophaguspharynx motility is presented. Physiopathogenesis problems of the Steinert's disease are noted.

Published
1980

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