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1. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare fatal autorecessive disease. Halter et al. report outcomes from all known haematopoietic stem cell transplantations worldwide from sibling or unrelated donors for MNGIE between 2005 and 2011. In some of the recipients, correction of the underlying metabolic defect results in gradual clinical improvement

Published
2017

2. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015

3. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015

4. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015

5. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, CTI Nierkens, Regenerative Medicine and Stem Cells, Child Health, Infection & Immunity, Halter, Joerg P., Schuepbach, W. Michael M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Simoes, Belinda Pinto, Hammans, Simon R., Savage, David, Marti, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Published
2015

6. Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Author

Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F., Mazanti, Ingrid, Waddell, Leigh B., Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, Oldfors, Anders, Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F., Mazanti, Ingrid, Waddell, Leigh B., Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem, Olayinka, Udd, Bjarne, Argov, Zohar, and Oldfors, Anders

Abstract

Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.

Published
2014
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7. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H, Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C, Krause, Sabine, Van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A, Brierley, Charlotte, Cooper, Robert G, Cottrell, David A, Davies, Nick P, Gibson, Andrew, Gorman, Gráinne S, Hammans, Simon, Jackson, Andrew P, Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J, Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H, Swingler, Robert, Turner, Chris, Wagner, Kathryn R, Maddison, Paul, Shaw, Pamela J, Straub, Volker, Bushby, Kate, and Lochmüller, Hanns

Abstract

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.

Published
2013

8. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Author

Anderson, Beverley H., Kasher, Paul R., Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M., Bhaskar, Sanjeev S., Urquhart, Jill E., Daly, Sarah B., Dickerson, Jonathan E., O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M. H., Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafe, Luisa, Brunstom-Hernandez, Janice E., Buckard, Johannes A., Chitayat, David, Chong, Wui K., Cordelli, Duccio M., Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H., Franzoni, Emilio, Garone, Caterina, Hammans, Simon R., Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J., Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenco, Charles M., Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K., Nunes, Luis, Ounap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R., Schiffmann, Raphael, Soh, Calvin, Stephenson, John B. P., Stewart, Helen, Stone, Jon, Tolmie, John L., van der Knaap, Marjo S., Vieira, Jose P., Vilain, Catheline N., Wakeling, Emma L., Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C., Meyer, Stefan, Livingston, John H., Baerlocher, Gabriela M., Black, Graeme C. M., Rice, Gillian I., Crow, Yanick J., Anderson, Beverley H., Kasher, Paul R., Mayer, Josephine, Szynkiewicz, Marcin, Jenkinson, Emma M., Bhaskar, Sanjeev S., Urquhart, Jill E., Daly, Sarah B., Dickerson, Jonathan E., O'Sullivan, James, Leibundgut, Elisabeth Oppliger, Muter, Joanne, Abdel-Salem, Ghada M. H., Babul-Hirji, Riyana, Baxter, Peter, Berger, Andrea, Bonafe, Luisa, Brunstom-Hernandez, Janice E., Buckard, Johannes A., Chitayat, David, Chong, Wui K., Cordelli, Duccio M., Ferreira, Patrick, Fluss, Joel, Forrest, Ewan H., Franzoni, Emilio, Garone, Caterina, Hammans, Simon R., Houge, Gunnar, Hughes, Imelda, Jacquemont, Sebastien, Jeannet, Pierre-Yves, Jefferson, Rosalind J., Kumar, Ram, Kutschke, Georg, Lundberg, Staffan, Lourenco, Charles M., Mehta, Ramesh, Naidu, Sakkubai, Nischal, Ken K., Nunes, Luis, Ounap, Katrin, Philippart, Michel, Prabhakar, Prab, Risen, Sarah R., Schiffmann, Raphael, Soh, Calvin, Stephenson, John B. P., Stewart, Helen, Stone, Jon, Tolmie, John L., van der Knaap, Marjo S., Vieira, Jose P., Vilain, Catheline N., Wakeling, Emma L., Wermenbol, Vanessa, Whitney, Andrea, Lovell, Simon C., Meyer, Stefan, Livingston, John H., Baerlocher, Gabriela M., Black, Graeme C. M., Rice, Gillian I., and Crow, Yanick J.

Abstract

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

Published
2012
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9. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Author

Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, Hirano, Michio, Halter, Joerg P., Michael, W., Schüpbach, M., Mandel, Hanna, Casali, Carlo, Orchard, Kim, Collin, Matthew, Valcarcel, David, Rovelli, Attilio, Filosto, Massimiliano, Dotti, Maria T., Marotta, Giuseppe, Pintos, Guillem, Barba, Pere, Accarino, Anna, Ferra, Christelle, Illa, Isabel, Beguin, Yves, Bakker, Jaap A., Boelens, Jaap J., de Coo, Irenaeus F. M., Fay, Keith, Sue, Carolyn M., Nachbaur, David, Zoller, Heinz, Sobreira, Claudia, Pinto Simoes, Belinda, Hammans, Simon R., Savage, David, Martí, Ramon, Chinnery, Patrick F., Elhasid, Ronit, Gratwohl, Alois, and Hirano, Michio

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare fatal autorecessive disease. Halter et al. report outcomes from all known haematopoietic stem cell transplantations worldwide from sibling or unrelated donors for MNGIE between 2005 and 2011. In some of the recipients, correction of the underlying metabolic defect results in gradual clinical improvement

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