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1. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Author

Marsh, Ashley PL, Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A, Yu, Timothy W, IRC5 Consortium, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J, Marsh, Ashley PL, Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, Billette de Villemeur, Thierry, Walsh, Christopher A, Yu, Timothy W, IRC5 Consortium, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, and Lockhart, Paul J

Abstract

The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).

Published
2018

2. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., Depienne, Christel, Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., and Depienne, Christel

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

3. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., Depienne, Christel, Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., and Depienne, Christel

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

4. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, A.P.L., Heron, D., Edwards, T.J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M-L, Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J., Depienne, C., Marsh, A.P.L., Heron, D., Edwards, T.J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M-L, Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J., and Depienne, C.

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

5. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, A.P.L., Heron, D., Edwards, T.J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M-L, Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J., Depienne, C., Marsh, A.P.L., Heron, D., Edwards, T.J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M-L, Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R., Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J., and Depienne, C.

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

6. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Author

Marsh, Ashley, Marsh, Ashley, Heron, Delphine, Edwards, Timothy, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin, Mandel, Jean-Louis, Amor, David, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Leventer, Richard, Richards, Linda, Lockhart, Paul, Depienne, Christel, Sherr, Elliott, Marsh, Ashley, Marsh, Ashley, Heron, Delphine, Edwards, Timothy, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin, Mandel, Jean-Louis, Amor, David, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Leventer, Richard, Richards, Linda, Lockhart, Paul, Depienne, Christel, and Sherr, Elliott

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

7. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., Depienne, Christel, Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., and Depienne, Christel

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

8. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Author

Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., Depienne, Christel, Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J., and Depienne, Christel

Abstract

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.

Published
2017

9. A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia

Author

Hainque, Elodie, Mutez, Eugénie, Doe De Maindreville, Anne, Lebouvier, Thibaud, Hubsch, Cécile, Degos, Bertrand, Bonnet, Cécilia, Grabli, David, Legrand, André Pierre, Méneret, Aurélie, Azulay, Jean Philippe, Vidailhet, Marie, Bissery, Anne, Zahr, Noël, Clot, Fabienne, Mallet, Alain, Dupont, Sophie, Apartis, Emmanuelle, Corvol, Jean-Christophe, Roze, Emmanuel, Cozic, Nathalie, Charbonnier-Beaupel, Fanny, Thobois, Stéphane, Tranchant, Christine, Brochard, Vanessa, Glibert, Gerald, Drapier, Sophie, Hainque, Elodie, Mutez, Eugénie, Doe De Maindreville, Anne, Lebouvier, Thibaud, Hubsch, Cécile, Degos, Bertrand, Bonnet, Cécilia, Grabli, David, Legrand, André Pierre, Méneret, Aurélie, Azulay, Jean Philippe, Vidailhet, Marie, Bissery, Anne, Zahr, Noël, Clot, Fabienne, Mallet, Alain, Dupont, Sophie, Apartis, Emmanuelle, Corvol, Jean-Christophe, Roze, Emmanuel, Cozic, Nathalie, Charbonnier-Beaupel, Fanny, Thobois, Stéphane, Tranchant, Christine, Brochard, Vanessa, Glibert, Gerald, and Drapier, Sophie

Abstract

Objective: To evaluate the efficacy and safety of zonisamide in patients with myoclonus-dystonia. Methods: We conducted a randomized, double-blind, placebo-controlled crossover trial of zonisamide (300 mg/d) in 24 patients with myoclonus-dystonia. Each treatment period consisted of a 6-week titration phase followed by a 3-week fixed-dose phase. The periods were separated by a 5-week washout period. The co-primary outcomes were action myoclonus severity (section 4 of the Unified Myoclonus Rating Scale [UMRS 4]) and myoclonus-related functional disability (UMRS 5). Secondary outcomes included dystonia severity, assessed with the movement and disability subscales of the Burke-Fahn-Marsden-Dystonia Rating Scale (BFM), the Clinical Global Impression-Improvement scale (CGI), and safety measures. Wilcoxon signed-rank tests for paired data were used to analyze treatment effects. Results: Twenty-three patients (11 men, 12 women) were analyzed in the intention-to-treat analysis. Zonisamide significantly improved both action myoclonus (median improvement [95% confidence limits] -5 [-9.25 to -1.44], p 0.003) and myoclonus-related functional disability (median improvement [95% confidence limits] -2 [-2.58 to -2.46], p 0.007) compared to placebo. Zonisamide also significantly improved dystonia (BFM movement) compared to placebo (median improvement [95% confidence limits] -3 [-8.46 to 0.03], p 0.009). No difference was found between zonisamide and placebo with respect to the CGI (median improvement [95% confidence limits] -1 [-1.31 to 0.09], p 0.1). Zonisamide was well-tolerated. Conclusions: Zonisamide is well-tolerated and effective on the motor symptoms of myoclonus-dystonia. Classification of evidence: This study provides Class I evidence that zonisamide improves myoclonus and related disability in patients with myoclonus-dystonia., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

10. A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Author

UCL - SSS/DDUV - Institut de Duve, Méneret, Aurélie, Wiame, Elsa, Marelli, Cecilia, Lenglet, Timothée, Van Schaftingen, Emile, Sedel, Frédéric, UCL - SSS/DDUV - Institut de Duve, Méneret, Aurélie, Wiame, Elsa, Marelli, Cecilia, Lenglet, Timothée, Van Schaftingen, Emile, and Sedel, Frédéric

Abstract

This case expands the phenotypic spectrum of 3-phosphoglycerate dehydrogenase deficiency. Plasma amino acid chromatography should be added to the list of investigations performed in patients with Charcot-Marie-Tooth–like polyneuropathy, especially if it is associated with psychomotor delay and congenital cataracts.

Published
2012

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