Evidence map›Paper›PMID 31267374›Full record

ReviewCerebellum (London, England)2019

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

Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D Schmahmann, Mario Manto, Guy A Rouleau and 2 more

Open access · hybridAbstract readReviewConsensus Statement
In one paragraph

Review in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 2 pooled it
8.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 125 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Drug repurposing in hereditary ataxia.npj drug discovery · 2026
    Review
  4. Article
  5. Article
  6. Novel homozygousTherapeutic advances in neurological disorders · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025
    Review
  13. Article
  14. Article
  15. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  16. Review
  17. Review
  18. Article
  19. Article
  20. Article

2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 11 institutions in 7 countries.

Marie BeaudinAxe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.ORCID http://orcid.org/0000-0001-8615-4390
Antoni Matilla-DueñasDepartment of Neuroscience, Health Sciences Research Institute Germans Trias i Pujol (IGTP), Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.
Bing-Weng SoongDepartment of Neurology, Shuang Ho Hospital and Taipei Neuroscience Institute, Taipei Medical University, Taipei, Taiwan, Republic of China.
Jose Luiz PedrosoAtaxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Orlando G BarsottiniAtaxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Hiroshi MitomaMedical Education Promotion Center, Tokyo Medical University, Tokyo, Japan.
Shoji TsujiThe University of Tokyo, Tokyo, Japan.
Jeremy D SchmahmannDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Mario MantoService de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.
Guy A RouleauMcGill University, Montreal, QC, Canada.
Christopher KleinMayo Clinic, Rochester, MN, USA.
Nicolas DupreAxe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada. nicolas.dupre@chudequebec.ca.
Universidade Federal de São Paulo · BRCentre hospitalier de l'Université Laval · CAHarvard University · USMayo Clinic in Arizona · USMcGill University · CANational Yang Ming Chiao Tung University · TWThe University of Tokyo · JPTokyo Medical University · JPUniversitat Autònoma de Barcelona · ESUniversité Laval · CAUniversity of Mons · BE

Funding

CIHR Bourse d'études supérieures du Canada (BESC M) Frederick-Banting et Charles-Best
6 · The paper itself

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.

Indexed as

ConsensusAdvisory CommitteesAnimalsCerebellar AtaxiaHumansSocieties, ScientificAtaxia telangiectasiaCerebellar ataxiaClassificationFriedreich ataxiaGeneticsSpinocerebellar degenerations

Identifiers

PMID31267374
PMCPMC6867988
OpenAlexW2954513868

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.