Evidence map›Paper›PMID 30532692›Full record

ArticleFrontiers in cellular neuroscience2018

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Suran Nethisinghe, Wei N Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden and 12 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in cellular neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 22% 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

13 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  9. Review
  10. Phenotypic variance in monozygotic twins with SCA3.Molecular genetics & genomic medicine · 2020
    Article
  11. Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020
    Article
  12. Article
  13. Review
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

22 authors at 6 institutions in 2 countries.

Suran NethisingheAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Wei N LimAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Heather GingAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Anna ZeitlbergerAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Rosella AbetiAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Sally PembleNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Mary G SweeneyNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Robyn LabrumNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Charisse CerveraNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Elisabeth RosserDepartment of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Patricia LimousinSobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Angus KennedyChelsea and Westminster Hospital, London, United Kingdom.
Michael P LunnDepartment of Neuroimmunology, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kailash P BhatiaSobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Nicholas W WoodDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
John HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.
James M PolkeNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Liana VenezianoIstituto di Farmacologia Traslazionale - National Research Council, Rome, Italy.
Alfredo BruscoDepartment of Medical Sciences, University of Turin, Turin, Italy.
Mary B DavisAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Paola GiuntiAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
National Hospital for Neurology and Neurosurgery · GBUniversity College London · GBAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITChelsea and Westminster Hospital · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBIstituto di Farmacologia Traslazionale · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (

Indexed as

ataxiaCAG repeat expansionsgenetic counselingneurodegenerationPolyQSCA17

Identifiers

PMID30532692
PMCPMC6265347
OpenAlexW2901373970

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.