| Title: | The Classification of Autosomal Recessive Cerebellar Ataxias : a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force |
|---|---|
| Author: | Beaudin, Marie; Matilla-Dueñas, Antoni; Soong, Bing-Weng; Pedroso, Jose Luiz; Barsottini, Orlando G.; Mitoma, Hiroshi; Tsuji, Shoji; Schmahmann, Jeremy D.; Manto, Mario; Rouleau, Guy A.; Klein, Christopher; Dupre, Nicolas; Universitat Autònoma de Barcelona |
| Abstract: | There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders. The work of this task force was based on a previously published systematic scoping review of the literature that identified autosomal recessive disorders characterized primarily by cerebellar motor dysfunction and cerebellar degeneration. The task force regrouped 12 international ataxia experts who decided on general orientation and specific issues. We identified 59 disorders that are classified as primary autosomal recessive cerebellar ataxias. For each of these disorders, we present geographical and ethnical specificities along with distinctive clinical and imagery features. These primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders that are associated with ataxia and should be included in the differential diagnosis of autosomal recessive ataxias. This classification is the result of a consensus among a panel of international experts, and it promotes a unified understanding of autosomal recessive cerebellar disorders for clinicians and researchers. |
| Subject(s): | -Spinocerebellar degenerations -Cerebellar ataxia -Friedreich ataxia -Ataxia telangiectasia -Genetics -Classification |
| Rights: | open access
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/ |
| Document type: | Article de revisió Article |
| Published by: | |
| Share: |
|
| Uri: | https://ddd.uab.cat/record/226523 |
Related documents
Other documents of the same author
Domínguez-Ruiz, María; García-Martínez, Alberto; Corral-Juan, Marc; Pérez-Álvarez, Ángel I.; Plasencia, Ana M.; Villamar, Manuela; Moreno-Pelayo, Miguel A.; Matilla-Dueñas, Antoni; Menéndez-González, Manuel; Del Castillo, Ignacio; Universitat Autònoma de Barcelona
Nguidjoe, Evrard; Sokolow, Sophie; Bigabwa, Serge; Pachera, Nathalie; Allagnat, Florent; Vanderwinden, Jean-Marie; Sener, Abdullah; Manto, Mario; Depreter, Marianne; Mast, Jan; Joanny Ordóñez, Géraldine; Montanya Mias, Eduard; Rahier, Jacques; Cardozo, Alessandra K.; Eizirik, Décio L.; Schurmans, Stéphane; Herchuelz, André; Amico, Eva D.
Genís, David; Matilla-Dueñas, Antoni; Volpini Bertrán, Víctor; Rosell, J.; Dávalos, Antoni; Ferrer, Isidro (Ferrer Abizanda); Molins, Albert; Estivill, Xavier, 1955-
Forstner, Andreas J.; Hecker, Julian; Hofmann, Andrea; Reinbold, Celine S.; Mühleisen, Thomas W.; Leber, Markus; Strohmaier, Jana; Degenhardt, Franziska; Treutlein, Jens; Mattheisen, Manuel; Schumacher, Johannes; Streit, Fabian; Meier, Sandra; Herms, Stefan; Hoffmann, Per; Lacour, André; Witt, Stephanie H.; Maaser, Anna; Reif, Andreas; Müller-Myhsok, Bertram; Lucae, Susanne; Maier, Wolfgang; Schwarz, Markus; Vedder, Helmut; Kammerer-Ciernioch, Jutta; Pfennig, Andrea; Bauer, Michael; Hautzinger, Martin; Moebus, Susanne; Schenk, Lorena M.; Fischer, Sascha B.; Sivalingam, Sugirthan; Czerski, Piotr M.; Hauser, Joanna; Lissowska, Jolanta; Szeszenia-Dabrowska, Neonila; Brennan, Paul; McKay, James D.; Wright, Adam; Mitchell, Philip B.; Fullerton, Janice M.; Schofield, Peter R.; Montgomery, Grant W.; Medland, Sarah E.; Gordon, Scott D.; Martin, Nicholas G.; Krasnov, Valery; Chuchalin, Alexander; Babadjanova, Gulja; Pantelejeva, Galina; Abramova, Lilia I.; Tiganov, Alexander S.; Polonikov, Alexey; Khusnutdinova, Elza; Alda, Martin; Cruceanu, Cristiana; Rouleau, Guy A.; Turecki, Gustavo; Laprise, Catherine; Rivas, Fabio; Mayoral, Fermin; Kogevinas, Manolis; Grigoroiu-Serbanescu, Maria; Becker, Tim; Schulze, Thomas G.; Rietschel, Manolis; Cichon, Sven; Fier, Heide; Nöthen, Markus N.
Beltrán Muñoz, María Jesús; Beltrán Muñoz, María Jesús; Munda, Giuseppe; Munda, Giuseppe; Velázquez, Esther; Velázquez, Esther; Universitat Autònoma de Barcelona. Institut de Ciència i Tecnologia Ambientals; Universitat Autònoma de Barcelona. Institut de Ciència i Tecnologia Ambientals; Universitat Autònoma de Barcelona; Universitat Autònoma de Barcelona