A new algorithm for molecular diagnostics in FTLD

作者: Barbara Borroni , Alessandro Padovani

DOI: 10.1038/NRNEUROL.2013.72

关键词:

摘要: Genetic diagnosis of frontotemporal lobar degeneration has become challenging since the identification a number autosomal dominantly inherited causative mutations. As highlighted in new paper, careful characterization clinical picture associated with specific gene defect is mandatory to guide genetic screening, and establish diagnostic algorithm for neurology practice.

参考文章(10)
Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, Didier Hannequin, Lucette Lacomblez, Véronique Golfier, Michèle Puel, Olivier Martinaud, Vincent Deramecourt, Sophie Rivaud-Pechoux, Stéphanie Millecamps, Martine Vercelletto, Philippe Couratier, François Sellal, Florence Pasquier, François Salachas, Catherine Thomas-Antérion, Mira Didic, Jérémie Pariente, Danielle Seilhean, Merle Ruberg, Isabelle Wargon, Frédéric Blanc, William Camu, Bernard-François Michel, Eric Berger, Mathilde Sauvée, Christel Thauvin-Robinet, Karl Mondon, Elisabeth Tournier-Lasserve, Cyril Goizet, Marie Fleury, Gabriel Viennet, Patrice Verpillat, Vincent Meininger, Charles Duyckaerts, Bruno Dubois, Alexis Brice, None, C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing Journal of Alzheimer's Disease. ,vol. 34, pp. 485- 499 ,(2013) , 10.3233/JAD-121456
Jonathan D. Rohrer, Gerard R. Ridgway, Marc Modat, Sebastien Ourselin, Simon Mead, Nick C. Fox, Martin N. Rossor, Jason D. Warren, Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. NeuroImage. ,vol. 53, pp. 1070- 1076 ,(2010) , 10.1016/J.NEUROIMAGE.2009.12.088
Raffaele Ferrari, John Hardy, Parastoo Momeni, None, Frontotemporal Dementia: From Mendelian Genetics Towards Genome Wide Association Studies Journal of Molecular Neuroscience. ,vol. 45, pp. 500- 515 ,(2011) , 10.1007/S12031-011-9635-Y
Jennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, Matthew L Senjem, Jeffrey L Gunter, Mariely DeJesus-Hernandez, Nicola J Rutherford, Matthew Baker, David S Knopman, Zbigniew K Wszolek, Joseph E Parisi, Dennis W Dickson, Ronald C Petersen, Rosa Rademakers, Clifford R Jack Jr, Keith A Josephs, None, Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. ,vol. 135, pp. 794- 806 ,(2012) , 10.1093/BRAIN/AWS001
R Ian, A Mackenzie, Manuela Neumann, Eileen H Bigio, Nigel J Cairns, Irina Alafuzoff, Jillian Kril, Gabor G Kovacs, Bernardino Ghetti, Glenda Halliday, Ida E Holm, Paul G Ince, Wouter Kamphorst, Tamas Revesz, J Annemieke, M Rozemuller, Samir Kumar-singh, Haruhiko Akiyama, Atik Baborie, Salvatore Spina, Dennis W Dickson, John Q Trojanowski, M David, A Mann, Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update Acta Neuropathologica. ,vol. 119, pp. 1- 4 ,(2010) , 10.1007/S00401-009-0612-2
Rosa Rademakers, Manuela Neumann, Ian R. Mackenzie, Advances in understanding the molecular basis of frontotemporal dementia Nature Reviews Neurology. ,vol. 8, pp. 423- 434 ,(2012) , 10.1038/NRNEUROL.2012.117
Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl‐Schmid, Alexandre de Mendonça, Gabriel Miltenberger‐Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei‐Hsin Chiang, Marie Westerlund, Raquel Sanchez‐Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G. Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean‐Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl‐Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger‐Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez‐Valle, Albert Llado, Anna Antonell, Jose Molinuevo, Ellen Gelpi, Caroline Graff, Huei‐Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson‐Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G. Kovacs, Thomas Ströbel, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer;, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cras, , A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats Human Mutation. ,vol. 34, pp. 363- 373 ,(2013) , 10.1002/HUMU.22244
H. Seelaar, J. D. Rohrer, Y. A. L. Pijnenburg, N. C. Fox, J. C. van Swieten, Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 82, pp. 476- 486 ,(2011) , 10.1136/JNNP.2010.212225
J. D. Rohrer, T. Lashley, J. M. Schott, J. E. Warren, S. Mead, A. M. Isaacs, J. Beck, J. Hardy, R. de Silva, E. Warrington, C. Troakes, S. Al-Sarraj, A. King, B. Borroni, M. J. Clarkson, S. Ourselin, J. L. Holton, N. C. Fox, T. Revesz, M. N. Rossor, J. D. Warren, Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration Brain. ,vol. 134, pp. 2565- 2581 ,(2011) , 10.1093/BRAIN/AWR198
Tim Van Langenhove, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Rik Vandenberghe, Mathieu Vandenbulcke, Jan De Bleecker, Anne Sieben, Jan Versijpt, Adrian Ivanoiu, Olivier Deryck, Christiana Willems, Lubina Dillen, Stéphanie Philtjens, Githa Maes, Veerle Bäumer, Marleen Van Den Broeck, Maria Mattheijssens, Karin Peeters, Jean-Jacques Martin, Alex Michotte, Patrick Santens, Peter De Jonghe, Patrick Cras, Peter P. De Deyn, Marc Cruts, Christine Van Broeckhoven, Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort JAMA Neurology. ,vol. 70, pp. 365- 373 ,(2013) , 10.1001/2013.JAMANEUROL.181