The Classification of Autosomal Recessive Cerebellar Ataxias : a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
Beaudin, Marie (Université Laval. Department of Medicine, Faculty of Medicine)
Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Soong, Bing-Weng (Taipei Veterans General Hospital. National Yang-Ming University School of Medicine)
Pedroso, Jose Luiz (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology)
Barsottini, Orlando G. (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology)
Mitoma, Hiroshi (Tokyo Medical University. Medical Education Promotion Center)
Tsuji, Shoji (International University of Health and Welfare)
Schmahmann, Jeremy D. (Harvard Medical School)
Manto, Mario (UMons. Service des Neurosciences)
Rouleau, Guy A. (McGill University)
Klein, Christopher (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Dupre, Nicolas (Université Laval. Department of Medicine, Faculty of Medicine)
Universitat Autònoma de Barcelona

Fecha:	2019
Resumen:	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.
Derechos:	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.
Lengua:	Anglès
Documento:	Article de revisió ; Article ; Versió publicada
Materia:	Spinocerebellar degenerations ; Cerebellar ataxia ; Friedreich ataxia ; Ataxia telangiectasia ; Genetics ; Classification
Publicado en:	Cerebellum, Vol. 18 (july 2019) , p. 1098-1125, ISSN 1473-4230

DOI: 10.1007/s12311-019-01052-2
PMID: 31267374

28 p, 1.6 MB

El registro aparece en las colecciones:
Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Artículos > Artículos publicados