TY - JOUR
T1 - The Classification of Autosomal Recessive Cerebellar Ataxias
T2 - a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
AU - Beaudin, Marie
AU - Matilla-Dueñas, Antoni
AU - Soong, Bing Weng
AU - Pedroso, Jose Luiz
AU - Barsottini, Orlando G.
AU - Mitoma, Hiroshi
AU - Tsuji, Shoji
AU - Schmahmann, Jeremy D.
AU - Manto, Mario
AU - Rouleau, Guy A.
AU - Klein, Christopher
AU - Dupre, Nicolas
N1 - Funding Information:
We thank Miruna Anohim for her contribution to the data collection on geographical specificities. Marie Beaudin is supported by the Canadian Institutes of Health Research.
Publisher Copyright:
© 2019, The Author(s).
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
KW - Ataxia telangiectasia
KW - Cerebellar ataxia
KW - Classification
KW - Friedreich ataxia
KW - Genetics
KW - Spinocerebellar degenerations
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U2 - 10.1007/s12311-019-01052-2
DO - 10.1007/s12311-019-01052-2
M3 - Article
C2 - 31267374
AN - SCOPUS:85068837272
SN - 1473-4222
VL - 18
SP - 1098
EP - 1125
JO - Cerebellum
JF - Cerebellum
IS - 6
ER -