Format

Send to

Choose Destination
Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Author information

1
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.
2
Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.
3
Department of Neuroscience, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.
4
Department of Neurology, Shuang Ho Hospital and Taipei Neuroscience Institute, Taipei Medical University, Taipei, Taiwan, Republic of China.
5
National Yang-Ming University School of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China.
6
Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
7
Medical Education Promotion Center, Tokyo Medical University, Tokyo, Japan.
8
The University of Tokyo, Tokyo, Japan.
9
International University of Health and Welfare, Chiba, Japan.
10
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
11
Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.
12
Service des Neurosciences, UMons, Mons, Belgium.
13
McGill University, Montreal, QC, Canada.
14
Mayo Clinic, Rochester, MN, USA.
15
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada. nicolas.dupre@chudequebec.ca.
16
Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada. nicolas.dupre@chudequebec.ca.

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.

KEYWORDS:

Ataxia telangiectasia; Cerebellar ataxia; Classification; Friedreich ataxia; Genetics; Spinocerebellar degenerations

Supplemental Content

Full text links

Icon for Springer Icon for PubMed Central
Loading ...
Support Center