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151. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Author

Bacquet, Juliette, primary, Stojkovic, Tanya, additional, Boyer, Amandine, additional, Martini, Nathalie, additional, Audic, Frédérique, additional, Chabrol, Brigitte, additional, Salort-Campana, Emmanuelle, additional, Delmont, Emilien, additional, Desvignes, Jean-Pierre, additional, Verschueren, Annie, additional, Attarian, Shahram, additional, Chaussenot, Annabelle, additional, Delague, Valérie, additional, Levy, Nicolas, additional, and Bonello-Palot, Nathalie, additional

Published
2018
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152. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study

Author

Freihuber, Cecile, primary, Dahmani, Bahia, additional, Brassier, Anais, additional, Broue, Pierre, additional, Cances, Claude, additional, Chabrol, Brigitte, additional, Eyer, Didier, additional, Labarthe, Fancois, additional, Latour, Philippe, additional, Levade, Thierry, additional, Pichard, Samia, additional, Sevin, Caroline, additional, Vanier, Marie Therese, additional, and Heron, Benedicte, additional

Published
2018
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153. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

Author

Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis, Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis

Abstract

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and rec

Published
2017

154. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, Willemsen, Michél A., Leen, Wilhelmina G., Klepper, Joerg, Verbeek, Marcel M., Leferink, Maike, Hofste, Tom, van Engelen, Baziel G., Wevers, Ron A., Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P., Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J., de Goede, Christian G. E. L., Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J., Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E. C., Mundy, Helen, Nilsson, Nils O., Panzer, Axel, Poll-The, Bwee T., Rauscher, Christian, Rouselle, Christophe M. R., Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A.

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. T

Published
2017

155. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Author

Schwartz, Mathias, primary, Sternberg, Damien, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Isapof, Arnaud, additional, Chabrol, Brigitte, additional, Portnoï, Marie-France, additional, Heide, Solveig, additional, Keren, Boris, additional, Chantot-Bastaraud, Sandra, additional, and Siffroi, Jean-Pierre, additional

Published
2017
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158. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, Craig M, primary, Campbell, Craig, additional, Torricelli, Ricardo Erazo, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Heydemann, Peter, additional, Kaminska, Anna, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Osorio, Andrés Nascimento, additional, Schara, Ulrike, additional, Sejersen, Thomas, additional, Shieh, Perry B, additional, Sweeney, H Lee, additional, Topaloglu, Haluk, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Voit, Thomas, additional, Wong, Brenda, additional, Elfring, Gary, additional, Kroger, Hans, additional, Luo, Xiaohui, additional, McIntosh, Joseph, additional, Ong, Tuyen, additional, Riebling, Peter, additional, Souza, Marcio, additional, Spiegel, Robert J, additional, Peltz, Stuart W, additional, Mercuri, Eugenio, additional, Alfano, Lindsay N, additional, Eagle, Michelle, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, Rose, Kristy J, additional, Abdel-Hamid, Hoda Z, additional, Apkon, Susan D, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bloetzer, Clemens, additional, de Vaud, Lausanne Canton, additional, Butterfield, Russell J, additional, Chabrol, Brigitte, additional, Chae, Jong-Hee, additional, Jongno-gu, Daehak-ro, additional, Comi, Giacomi Pietro, additional, Darras, Basil T, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Guglieri, Michela, additional, Hughes, Imelda, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Nevo, Yoram, additional, Parsons, Julie, additional, Péréon, Yann, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Renfroe, J Ben, additional, de Resende, Maria Bernadete Dutra, additional, Ryan, Monique, additional, Selby, Kathryn, additional, Tennekoon, Gihan, additional, and Vita, Giuseppe, additional

Published
2017
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161. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

Author

Bertini, Enrico, primary, Dessaud, Eric, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Kirschner, Janbernd, additional, Reid, Carol, additional, Lusakowska, Anna, additional, Comi, Giacomo P, additional, Cuisset, Jean-Marie, additional, Abitbol, Jean-Louis, additional, Scherrer, Bruno, additional, Ducray, Patricia Sanwald, additional, Buchbjerg, Jeppe, additional, Vianna, Eduardo, additional, van der Pol, W Ludo, additional, Vuillerot, Carole, additional, Blaettler, Thomas, additional, Fontoura, Paulo, additional, André, Carole, additional, Bruno, Claudio, additional, Chabrol, Brigitte, additional, Deconinck, Nicolas, additional, Estournet, Brigitte, additional, Fontaine-Carbonnel, Stephanie, additional, Goemans, Nathalie, additional, Gorni, Ksenija, additional, Govoni, Alessandra, additional, Guglieri, Michela, additional, Lochmuller, Hanns, additional, Magri, Francesca, additional, Mayer, Michele, additional, Müller-Felber, Wolfgang, additional, Rivier, François, additional, Roper, Helen, additional, Schara, Ulrike, additional, Scoto, Mariacristina, additional, van den Berg, Leonard, additional, Vita, Giuseppe, additional, and Walter, Maggie C, additional

Published
2017
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162. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

Author

Morel, Godelieve, primary, Bannwarth, Sylvie, additional, Chaussenot, Annabelle, additional, Cano, Aline, additional, Fragaki, Konstantina, additional, Ait-El-Mkadem, Samira, additional, Rouzier, Cecile, additional, De Paula, Andre Maues, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Veronique, additional

Published
2016
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164. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Author

Campbell, Craig, Barohn, Richard J, Bertini, Enrico, Chabrol, Brigitte, Comi, Giacomo Pietro, Darras, Basil T, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Iannaccone, Susan T, Jones, Kristi J, Kirschner, Janbernd, Mah, Jean K, Mathews, Katherine D, McDonald, Craig M, Mercuri, Eugenio, Nevo, Yoram, Péréon, Yann, Renfroe, J Ben, Ryan, Monique M, Sampson, Jacinda B, Schara, Ulrike, Sejersen, Thomas, Selby, Kathryn, Tulinius, Már, Vílchez, Juan J, Voit, Thomas, Wei, Lee-Jen, Wong, Brenda L, Elfring, Gary, Souza, Marcio, McIntosh, Joseph, Trifillis, Panayiota, Peltz, Stuart W, and Muntoni, Francesco

Abstract

Aim:Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). Materials & methods:Data from the two completed randomized controlled trials (ClinicalTrials.gov: NCT00592553; NCT01826487) of ataluren in nmDMD were combined to examine the intent-to-treat (ITT) populations and two patient subgroups (baseline 6-min walk distance [6MWD] ≥300–<400 or <400 m). Meta-analyses examined 6MWD change from baseline to week 48. Results:Statistically significant differences in 6MWD change with ataluren versus placebo were observed across all three meta-analyses. Least-squares mean difference (95% CI): ITT (n = 342), +17.2 (0.2–34.1) m, p = 0.0473; ≥300–<400 m (n = 143), +43.9 (18.2–69.6) m, p = 0.0008; <400 m (n = 216), +27.7 (6.4–49.0) m, p = 0.0109. Conclusion:These meta-analyses support previous evidence for ataluren in slowing disease progression versus placebo in patients with nmDMD over 48 weeks. Treatment benefit was most evident in patients with a baseline 6MWD ≥300–<400 m (the ambulatory transition phase), thereby informing future trial design.

Published
2020
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165. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (vol 39, pg 713, 2016)

Author

Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., Moura de Souza, Carolina Fischinger, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A., Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., Moura de Souza, Carolina Fischinger, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., and Wevers, Ron A.

Published
2016

166. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (vol 39, pg 713, 2016)

Author

Metabole ziekten patientenzorg, Child Health, Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., Moura de Souza, Carolina Fischinger, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A., Metabole ziekten patientenzorg, Child Health, Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., Moura de Souza, Carolina Fischinger, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., and Wevers, Ron A.

Published
2016

167. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Author

Metabole ziekten patientenzorg, Child Health, Morava, Eva, Tiemes, Vera, Tiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D G, de Souza, Carolina Fischinger Moura, Schwartz, Ida V D, Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A., Metabole ziekten patientenzorg, Child Health, Morava, Eva, Tiemes, Vera, Tiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D G, de Souza, Carolina Fischinger Moura, Schwartz, Ida V D, Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., and Wevers, Ron A.

Published
2016

168. Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Author

Husson, Marie-Caroline, primary, Schiff, Manuel, additional, Fouilhoux, Alain, additional, Cano, Aline, additional, Dobbelaere, Dries, additional, Brassier, Anais, additional, Mention, Karine, additional, Arnoux, Jean-Baptiste, additional, Feillet, François, additional, Chabrol, Brigitte, additional, Guffon, Nathalie, additional, Elie, Caroline, additional, and de Lonlay, Pascale, additional

Published
2016
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170. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Kölker, Stefan, Garcia-Cazorla, Angeles, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, I Saladelafont, Elisenda Cortès, Couce, Maria L, de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Burgard, Peter, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Kölker, Stefan, Garcia-Cazorla, Angeles, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, I Saladelafont, Elisenda Cortès, Couce, Maria L, de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, and Burgard, Peter

Abstract

BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific. AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry. RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only). CONCLUSIONS: The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

Published
2015

171. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, Garcia Cazorla, Angeles, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B, Sykut-Cegielska, Jolanta, Wijburg, Frits A, Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R, Blasco-Alonso, Javier, Boy, S P Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L, de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C, Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L, Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H, Williams, Monique, Lund, Allan M, Garcia-Cazorla, Angeles, and Garcia Cazorla, Angeles

Abstract

BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

Published
2015

173. Department of Otolaryngology, University of Michigan, Ann Arbor, Ann Arbor, Michigan, USA.

Author

Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, and Bonello-Palot, Nathalie

Abstract

Purpose Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants. Design and participants We have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT. Results We have solved the molecular diagnosis in 49 of 123 patients (~40%). Among the identified variants, 26 variants were already reported in the literature. In our cohort, the most frequently mutated genes are respectively: MFN2, SH3TC2, GDAP1, NEFL, GAN, KIF5A and AARS. Panel-based NGS was more efficient in familial cases than in sporadic cases (diagnostic yield 49%vs19%, respectively). NGS-based search for copy number variations, allowed the identification of three duplications in three patients and raised the diagnostic yield to 41%. This yield is two times higher than the one obtained previously by gene Sanger sequencing screening. The impact of panel-based NGS screening is particularly important for demyelinating CMT (CMT1) subtypes, for which the success rate reached 87% (36% only for axonal CMT2). Conclusion NGS allowed to identify causal mutations in a shorter and cost-effective time. Actually, targeted NGS is a well-suited strategy for efficient molecular diagnosis of IPNs. However, NGS leads to the identification of numerous variants of unknown significance, which interpretation requires interdisciplinary collaborations between molecular geneticists, clinicians and (neuro)pathologists. [ABSTRACT FROM AUTHOR]

Published
2018
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174. Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Author

Barraud, Coline, Desguerre, Isabelle, Barnerias, Christine, Gitiaux, Cyril, Boulay, Christophe, and Chabrol, Brigitte

Subjects
MYASTHENIA gravis treatment, CHOLINERGIC receptors, AGE factors in disease, AUTOANTIBODIES, HOSPITAL care, IMMUNOADSORPTION, INTENSIVE care units, LONGITUDINAL method, MYASTHENIA gravis, TRANSFERASES, DISEASE remission, RETROSPECTIVE studies, DISEASE progression
Abstract

Introduction: In this study we determined the clinical, paraclinical, and treatment-related features of juvenile myasthenia gravis (JMG) as well as the clinical course in a cohort of French children.Methods: We conducted a retrospective study of 40 patients with JMG at 2 French pediatric neurology departments from April 2004 to April 2014.Results: Among the patients, 70% had generalized JMG, 52% had positive acetylcholine receptor antibodies, 8% had muscle-specific kinase antibodies, and 40% were seronegative. Treatment with acetylcholinesterase inhibitors was effective and sufficient in 47% of patients. The 6 patients with generalized JMG treated with rituximab and/or immunoadsorption showed improvement. Thirty percent of the patients required hospitalization in an intensive care unit during follow-up (mean 4.7 years). Remission without treatment occurred in 18% of patients.Discussion: As with adults, JMG has high morbidity, particularly among children with generalized symptoms, and rituximab should be considered early in the course of the disease as a second-line treatment. Muscle Nerve 57: 603-609, 2018. [ABSTRACT FROM AUTHOR]

Published
2018
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175. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Author

Mercier, Sandra, primary, Küry, Sébastien, additional, Salort-Campana, Emmanuelle, additional, Magot, Armelle, additional, Agbim, Uchenna, additional, Besnard, Thomas, additional, Bodak, Nathalie, additional, Bou-Hanna, Chantal, additional, Bréhéret, Flora, additional, Brunelle, Perrine, additional, Caillon, Florence, additional, Chabrol, Brigitte, additional, Cormier-Daire, Valérie, additional, David, Albert, additional, Eymard, Bruno, additional, Faivre, Laurence, additional, Figarella-Branger, Dominique, additional, Fleurence, Emmanuelle, additional, Ganapathi, Mythily, additional, Gherardi, Romain, additional, Goldenberg, Alice, additional, Hamel, Antoine, additional, Igual, Jeanine, additional, Irvine, Alan D., additional, Israël-Biet, Dominique, additional, Kannengiesser, Caroline, additional, Laboisse, Christian, additional, Le Caignec, Cédric, additional, Mahé, Jean-Yves, additional, Mallet, Stéphanie, additional, MacGowan, Stuart, additional, McAleer, Maeve A., additional, McLean, Irwin, additional, Méni, Cécile, additional, Munnich, Arnold, additional, Mussini, Jean-Marie, additional, Nagy, Peter L., additional, Odel, Jeffrey, additional, O’Regan, Grainne M., additional, Péréon, Yann, additional, Perrier, Julie, additional, Piard, Juliette, additional, Puzenat, Eve, additional, Sampson, Jacinda B., additional, Smith, Frances, additional, Soufir, Nadem, additional, Tanji, Kurenai, additional, Thauvin, Christel, additional, Ulane, Christina, additional, Watson, Rosemarie M., additional, Khumalo, Nonhlanhla P., additional, Mayosi, Bongani M., additional, Barbarot, Sébastien, additional, and Bézieau, Stéphane, additional

Published
2015
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176. CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

Author

Morel, Godelieve, primary, Rouzier, Cécile, additional, Chaussenot, Annabelle, additional, Ait-El-Mkadem, Samira, additional, Bannwarth, Sylvie, additional, Genin, Emmanuelle C., additional, Augé, Gaëlle, additional, Chabrol, Brigitte, additional, Pouget, Jean, additional, Soriani, Marie Hélène, additional, Sacconi, Sabrina, additional, and Paquis-Flucklinger, Véronique, additional

Published
2015
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178. Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Author

Colin, Estelle, primary, Huynh Cong, Evelyne, additional, Mollet, Géraldine, additional, Guichet, Agnès, additional, Gribouval, Olivier, additional, Arrondel, Christelle, additional, Boyer, Olivia, additional, Daniel, Laurent, additional, Gubler, Marie-Claire, additional, Ekinci, Zelal, additional, Tsimaratos, Michel, additional, Chabrol, Brigitte, additional, Boddaert, Nathalie, additional, Verloes, Alain, additional, Chevrollier, Arnaud, additional, Gueguen, Naig, additional, Desquiret-Dumas, Valérie, additional, Ferré, Marc, additional, Procaccio, Vincent, additional, Richard, Laurence, additional, Funalot, Benoit, additional, Moncla, Anne, additional, Bonneau, Dominique, additional, and Antignac, Corinne, additional

Published
2014
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179. Neurologie pédiatrique (3° Éd.) (collection Pédiatrie)

Author

PONSOT Gérard, DULAC Olivier, ARTHUIS Michel, CHABROL Brigitte, MANCINI Josette, PONSOT Gérard, DULAC Olivier, ARTHUIS Michel, CHABROL Brigitte, and MANCINI Josette

Abstract

La pathologie neurologique infantile occupe une place majeure dans la pathologie pédiatrique, en raison de sa fréquence et de la gravité de ses conséquences sur le développement psychomoteur des enfants. La 3e édition de Neurologie pédiatrique, qui paraît 12 ans après l'édition précédente, a été entièrement réécrite afin d'intégrer les progrès extrêmement rapides effectués dans divers domaines tels que la génétique moléculaire, les connaissances des mécanismes physiopathologiques, les méthodes d'investigation, les avancées thérapeutiques. Cette nouvelle édition rend compte de cette fascinante évolution. Ainsi les chapitres consacrés à l'imagerie structurale et fonctionnelle, le développement du système nerveux, les malformations, les maladies neurométaboliques, neurodégénératives, neuromusculaires, les pathologies circulatoires, tumorales, infectieuses, etc., sont entièrement mis à jour. Un nouveau chapitre très complet porte sur le diagnostic anténatal des pathologies neurologiques, qui occupe maintenant une place fondamentale dans la pathologie pédiatrique. Le chapitre consacré à l'épilepsie, pathologie la plus fréquemment rencontrée en neuropédiatrie, a bénéficié d'une refonte complète prenant en compte les nouveaux moyens d'investigation diagnostique et les nouveaux traitements médicaux et chirurgicaux. Les déficiences et handicaps neurologiques sont analysés du point de vue de leurs conséquences médicales, mais également éducatives à la lumière de la loi du 11 février 2005 sur le droit des personnes handicapées. Les fonctions cérébrales supérieures de l'enfant et leurs dérèglements sont étudiés et enrichis des apports sur la connaissance du rôle du cervelet dans la cognition. La place de la pédopsychiatrie dans les maladies neurologiques a été considérablement développée, notamment à travers le problème complexe des pathologies de conversion chez l'enfant. Cette 3e édition de Neurologie pédiatrique constitue actuellement le traité le plus complet et le plus à jour dans le domaine de la neurologie infantile, aussi bien dans la littérature française qu'étrangère.

Published
2010

180. The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Author

Boizot, Alexia, primary, Talmat-Amar, Yasmina, additional, Morrogh, Deborah, additional, Kuntz, Nancy L, additional, Halbert, Cecile, additional, Chabrol, Brigitte, additional, Houlden, Henry, additional, Stojkovic, Tanya, additional, Schulman, Brenda A, additional, Rautenstrauss, Bernd, additional, and Bomont, Pascale, additional

Published
2014
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183. Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Schiff, Manuel, Broue, Pierre, Chabrol, Brigitte, De Laet, Corinne, Habes, Dalila, Mention, Karine, Sarles, Jacques, Spraul, Anne, French-Belgian study group for HT-1, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Schiff, Manuel, Broue, Pierre, Chabrol, Brigitte, De Laet, Corinne, Habes, Dalila, Mention, Karine, Sarles, Jacques, Spraul, Anne, French-Belgian study group for HT-1, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, and Sokal, Etienne

Abstract

The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT-1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder. Despite the dramatic improvements in survival, outcomes and quality of life seen with NTBC treatment, HT-1 remains a chronic disorder with several long-term complications, including, a persistent (albeit low) risk of hepatocellular carcinoma and suboptimal neuropsychological outcomes. There remain unsolved key-questions concerning the long-term outcomes of patients with HT-1, which closely depend on the quality of follow-up in these patients. In the absence of published guidelines, we investigated the follow-up methods used for French and Belgian patients with HT-1. A simple questionnaire providing a rapid overview of follow-up procedures was sent to the 19 physicians in charge of HT-1 patients treated with NTBC and low-tyrosine diet in France and Belgium. Several areas of heterogeneity (especially liver imaging, slit lamp examination, neuropsychological evaluation and maximal plasma tyrosine level accepted) were observed. In an attempt to improve long-term management and outcome of patients with HT-1, we proposed follow-up recommendations.

Published
2012

184. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Author

Leen, Wilhelmina G, Klepper, Joerg, Verbeek, Marcel M, Leferink, Maike, Hofste, Tom, van Engelen, Baziel G, Wevers, Ron A, Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, Van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P, Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J, de Goede, Christian G E L, Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J, Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E C, Mundy, Helen, Nilsson, Nils O, Panzer, Axel, Poll-The, Bwee T, Rauscher, Christian, Rouselle, Christophe M R, Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, Willemsen, Michél A, Leen, Wilhelmina G, Klepper, Joerg, Verbeek, Marcel M, Leferink, Maike, Hofste, Tom, van Engelen, Baziel G, Wevers, Ron A, Arthur, Todd, Bahi-Buisson, Nadia, Ballhausen, Diana, Bekhof, Jolita, Van Bogaert, Patrick, Carrilho, Inês, Chabrol, Brigitte, Champion, Michael P, Coldwell, James, Clayton, Peter, Donner, Elizabeth, Evangeliou, Athanasios, Ebinger, Friedrich, Farrell, Kevin, Forsyth, Rob J, de Goede, Christian G E L, Gross, Stephanie, Grunewald, Stephanie, Holthausen, Hans, Jayawant, Sandeep, Lachlan, Katherine, Laugel, Vincent, Leppig, Kathy, Lim, Ming J, Mancini, Grazia, Marina, Adela Della, Martorell, Loreto, McMenamin, Joe, Meuwissen, Marije E C, Mundy, Helen, Nilsson, Nils O, Panzer, Axel, Poll-The, Bwee T, Rauscher, Christian, Rouselle, Christophe M R, Sandvig, Inger, Scheffner, Thomas, Sheridan, Eamonn, Simpson, Neil, Sykora, Parol, Tomlinson, Richard, Trounce, John, Webb, David, Weschke, Bernhard, Scheffer, Hans, and Willemsen, Michél A

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid :blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Ty, JOURNAL ARTICLE, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2010

185. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

Author

Steenweg, Marjan E, Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J M, Adeva Bartolomé, Maria T, Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T R, Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D, de Klerk, Hans B C, Korman, Stanley H, Lee, Céline, Meldgaard Lund, Allan, Mejaski-Bosnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L, Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K, Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I, Spreeuwenberg, Marieke D, Celli, Jacopo, den Dunnen, Johan T, van der Knaap, Marjo S, Salomons, Gajja S, Steenweg, Marjan E, Jakobs, Cornelis, Errami, Abdellatif, van Dooren, Silvy J M, Adeva Bartolomé, Maria T, Aerssens, Peter, Augoustides-Savvapoulou, Persephone, Baric, Ivo, Baumann, Matthias, Bonafé, Luisa, Chabrol, Brigitte, Clarke, Joe T R, Clayton, Peter, Coker, Mahmut, Cooper, Sarah, Falik-Zaccai, Tzipora, Gorman, Mark, Hahn, Andreas, Hasanoglu, Alev, King, Mary D, de Klerk, Hans B C, Korman, Stanley H, Lee, Céline, Meldgaard Lund, Allan, Mejaski-Bosnjak, Vlatka, Pascual-Castroviejo, Ignacio, Raadhyaksha, Aparna, Rootwelt, Terje, Roubertie, Agathe, Ruiz-Falco, Maria L, Scalais, Emmanuel, Schimmel, Ulf, Seijo-Martinez, Manuel, Suri, Mohnish, Sykut-Cegielska, Jolanta, Trefz, Friedrich K, Uziel, Graziella, Valayannopoulos, Vassili, Vianey-Saban, Christine, Vlaho, Stefan, Vodopiutz, Julia, Wajner, Moacir, Walter, John, Walter-Derbort, Claudia, Yapici, Zuhal, Zafeiriou, Dimitrios I, Spreeuwenberg, Marieke D, Celli, Jacopo, den Dunnen, Johan T, van der Knaap, Marjo S, and Salomons, Gajja S

Abstract

L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2-hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis. All patients with increased L2HG (n=106; 83 families) were included. Clinical information on 61 patients was obtained via questionnaires. In 82 families the mutations were detected by direct sequence analysis and/or multiplex ligation dependent probe amplification (MLPA), including one case where MLPA was essential to detect the second allele. In another case RT-PCR followed by deep intronic sequencing was needed to detect the mutation. Thirty-five novel mutations as well as 35 reported mutations and 14 nondisease-related variants are reviewed and included in a novel Leiden Open source Variation Database (LOVD) for L2HGDH variants (http://www.LOVD.nl/L2HGDH). Every user can access the database and submit variants/patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship.

Published
2010

186. Creatine and guanidinoacetate reference values in a French population

Author

Joncquel-Chevalier Curt, Marie, primary, Cheillan, David, additional, Briand, Gilbert, additional, Salomons, Gajja S., additional, Mention-Mulliez, Karine, additional, Dobbelaere, Dries, additional, Cuisset, Jean-Marie, additional, Lion-François, Laurence, additional, Des Portes, Vincent, additional, Chabli, Allel, additional, Valayannopoulos, Vassili, additional, Benoist, Jean-François, additional, Pinard, Jean-Marc, additional, Simard, Gilles, additional, Douay, Olivier, additional, Deiva, Kumaran, additional, Tardieu, Marc, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Rivier, François, additional, Chabrol, Brigitte, additional, Prieur, Fabienne, additional, Cartault, François, additional, Pitelet, Gaëlle, additional, Goldenberg, Alice, additional, Bekri, Soumeya, additional, Gerard, Marion, additional, Delorme, Richard, additional, Porchet, Nicole, additional, Vianey-Saban, Christine, additional, and Vamecq, Joseph, additional

Published
2013
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191. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Author

Rouzier, Cécile, primary, Chaussenot, Annabelle, additional, Serre, Valérie, additional, Fragaki, Konstantina, additional, Bannwarth, Sylvie, additional, Ait-El-Mkadem, Samira, additional, Attarian, Shahram, additional, Kaphan, Elsa, additional, Cano, Aline, additional, Delmont, Emilien, additional, Sacconi, Sabrina, additional, de Camaret, Bénédicte Mousson, additional, Rio, Marlène, additional, Lebre, Anne-Sophie, additional, Jardel, Claude, additional, Deschamps, Romain, additional, Richelme, Christian, additional, Pouget, Jean, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Véronique, additional

Published
2013
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193. Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

Author

Milh, Mathieu, primary, Falace, Antonio, additional, Villeneuve, Nathalie, additional, Vanni, Nicola, additional, Cacciagli, Pierre, additional, Assereto, Stefania, additional, Nabbout, Rima, additional, Benfenati, Fabio, additional, Zara, Federico, additional, Chabrol, Brigitte, additional, Villard, Laurent, additional, and Fassio, Anna, additional

Published
2013
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194. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Author

Ramachandran, Nivetha, primary, Munteanu, Iulia, additional, Wang, Peixiang, additional, Ruggieri, Alessandra, additional, Rilstone, Jennifer J., additional, Israelian, Nyrie, additional, Naranian, Taline, additional, Paroutis, Paul, additional, Guo, Ray, additional, Ren, Zhi-Ping, additional, Nishino, Ichizo, additional, Chabrol, Brigitte, additional, Pellissier, Jean-Francois, additional, Minetti, Carlo, additional, Udd, Bjarne, additional, Fardeau, Michel, additional, Tailor, Chetankumar S., additional, Mahuran, Don J., additional, Kissel, John T., additional, Kalimo, Hannu, additional, Levy, Nicolas, additional, Manolson, Morris F., additional, Ackerley, Cameron A., additional, and Minassian, Berge A., additional

Published
2013
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196. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Author

Milh, Mathieu, primary, Boutry-Kryza, Nadia, additional, Sutera-Sardo, Julie, additional, Mignot, Cyril, additional, Auvin, Stéphane, additional, Lacoste, Caroline, additional, Villeneuve, Nathalie, additional, Roubertie, Agathe, additional, Heron, Bénédicte, additional, Carneiro, Maryline, additional, Kaminska, Anna, additional, Altuzarra, Cécilia, additional, Blanchard, Gaëlle, additional, Ville, Dorothée, additional, Barthez, Marie, additional, Heron, Delphine, additional, Gras, Domitille, additional, Afenjar, Alexandra, additional, Dorison, Nathalie, additional, Doummar, Dianne, additional, Billette de Villemeur, Thierry, additional, An, Isabelle, additional, Jacquette, Aurélia, additional, Charles, Perrine, additional, Perrier, Julie, additional, Isidor, Bertrand, additional, Vercueil, Laurent, additional, Chabrol, Brigitte, additional, Badens, Catherine, additional, Lesca, Gaétan, additional, and Villard, Laurent, additional

Published
2013
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197. Aortic dilatation in Cockayne syndrome

Author

UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, Ovaert, Caroline, Cano, Aline, Chabrol, Brigitte, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - (SLuc) Centre des cardiopathies congénitales de l'adulte, Ovaert, Caroline, Cano, Aline, and Chabrol, Brigitte

Abstract

Cockayne syndrome is a rare growth failure and premature aging disorder featuring abnormal ultraviolet sensitivity and impaired transcription-coupled DNA repair. Cardiac involvement has not been described in Cockayne patients except for one recently described case of dilated cardiomyopathy. We describe one patient in whom marked ascending aorta dilatation was observed together with mild aortic regurgitation. Ascending aorta dilatation might be another feature of premature aging in Cockayne syndrome and may require cardiovascular investigation and monitoring.

Published
2007

198. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Author

Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, Lonlay, Pascale, Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, Hasselt, Peter, Horovitz, Dafne, Souza, Carolina, Schwartz, Ida, Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, Spronsen, Franc-Jan, and Steinert, Martin

Abstract

Introduction: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. Methods: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. Results: We found hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes, was one of the most significant complaints. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old Dutch woman. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation. Discussion: ALG6-CDG has been now described in 89 patients, making it the second most common type of CDG. It has a recognizable phenotype and a primary neurologic presentation. [ABSTRACT FROM AUTHOR]

Published
2016
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199. Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Author

Sedel, Frédéric, Chabrol, Brigitte, Audoin, Bertrand, Kaphan, Elsa, Tranchant, Christine, Burzykowski, Tomasz, Tourbah, Ayman, Vanier, Marie, and Galanaud, Damien

Subjects
*NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GLYCOSPHINGOLIPIDS, *SPECTRUM analysis, *NEUROLOGIC manifestations of general diseases, *BRAIN abnormalities
Abstract

Niemann-Pick disease type C (NP-C) is a fatal progressive neurolipidosis involving neuronal storage of cholesterol and gangliosides. Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children with NP-C. This open-label observational study in adults with confirmed NP-C evaluated the efficacy of miglustat (200 mg t.i.d.) based on composite functional disability (CFD) scores and brain proton magnetic resonance spectroscopy (H-MRS) measurement of choline (Cho)/ N-acetyl aspartate (NAA) ratio in the centrum ovale. Overall, 16 patients were included and received miglustat for a mean period of 30.6 months: 12 continued on miglustat throughout follow up, and 4 discontinued miglustat because of adverse effects ( n = 2) or perceived lack of efficacy ( n = 2). In the 'continued' subgroup, the mean (SD) annual progression of CFD scores decreased from 0.75 (0.94) before treatment to 0.29 (1.29) during the period between miglustat initiation and last follow-up. In the discontinued subgroup, CFD progression increased from 0.48 (0.44) pre-treatment to 1.49 (1.31) at last follow up (off treatment). Mean (SD) Cho/NAA ratio [normal level 0.48 (0.076)] decreased during miglustat treatment in the continued subgroup: 0.64 (0.12) at baseline (miglustat initiation), 0.59 (0.17) at 12-month follow up, and 0.48 (0.09) at 24-month follow up. Cho/NAA ratio remained relatively stable in the discontinued subgroup: 0.57 (0.15), 0.53 (0.04) and 0.55 (0.09), respectively. In conclusion, H-MRS Cho/NAA ratio might serve as an objective, quantitative neurological marker of brain dysfunction in NP-C, allowing longitudinal analysis of the therapeutic effect of miglustat. [ABSTRACT FROM AUTHOR]

Published
2016
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200. Neuroimaging differential diagnoses to abusive head trauma.

Author

Girard, Nadine, Brunel, Hervé, Dory-Lautrec, Philippe, and Chabrol, Brigitte

Subjects
BRAIN injuries, CHILD death, BRAIN imaging, COMPUTED tomography, HEAD injuries, BLOOD diseases
Abstract

Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. [ABSTRACT FROM AUTHOR]

Published
2016
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