Evidence map›Paper›PMID 29089256›Full record

ArticleParkinsonism & related disorders2017

Dystonia and ataxia progression in spinocerebellar ataxias.

Pei-Hsin Kuo, Shi-Rui Gan, Jie Wang, Raymond Y Lo, Karla P Figueroa, Darya Tomishon, Stefan M Pulst, Susan Perlman, George Wilmot, Christopher M Gomez and 11 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Parkinsonism & related disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01060371 (Clinical Research Consortium for the Study of Cerebellar Ataxias), which is not on this map. Cited by 36 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 2 pooled it
2.6field-weighted citation impact, top 10% 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.

NCT01060371 recruitingnot on this map

Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA) for the Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias (SCA)

TypeobservationalSponsorLauren MooreRan2010 to 2030Enrolled1,400ConditionsSpinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6ArmsGenetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan, Assessments and Questionnaires, Cerebrospinal Fluid Collection
3 · Its place in the literature

Who cites it

36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.

  1. Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026
    Pooled it
  2. Pooled it
  3. Trial
  4. Review
  5. Review
  6. Review
  7. Review
  8. Movement Disorders in Hereditary Cerebellar Ataxia.Movement disorders clinical practice · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Observational
  15. Article
  16. Article
  17. Review
  18. Dystonia and Cerebellum: From Bench to Bedside.Life (Basel, Switzerland) · 2021
    Review
  19. Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2021
    Article
  20. Contemporary functional neuroanatomy and pathophysiology of dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021
    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

21 authors at 18 institutions in 3 countries.

Pei-Hsin KuoDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Neurology, Buddhist Tzu Chi General Hospital, Tzu Chi University, Hualien, Taiwan.
Shi-Rui GanDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Neurology, Institute of Neurology, First Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory of Molecular Neurology, Fuzhou, China.
Jie WangDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Department of Fundamental and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu, China.
Raymond Y LoDepartment of Neurology, Buddhist Tzu Chi General Hospital, Tzu Chi University, Hualien, Taiwan.
Karla P FigueroaDepartment of Neurology, University of Utah, Salt Lake City, UT, USA.
Darya TomishonDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Stefan M PulstDepartment of Neurology, University of Utah, Salt Lake City, UT, USA.
Susan PerlmanDepartment of Neurology, University of California, Los Angeles, CA, USA.
George WilmotDepartment of Neurology, Emory University, Atlanta, GA, USA.
Christopher M GomezDepartment of Neurology, University of Chicago, Chicago, IL, USA.
Jeremy D SchmahmannDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Henry PaulsonDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Vikram G ShakkottaiDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Sarah H YingDepartment of Neurology, Johns Hopkins University, Baltimore, MD, USA.
Theresa ZesiewiczDepartment of Neurology, University of South Florida, Tampa, FL, USA.
Khalaf BusharaDepartment of Neurology, University of Minnesota, Minneapolis, MN, USA.
Michael D GeschwindDepartment of Neurology, University of California, San Francisco, USA.
Guangbin XiaDepartment of Neurology, University of New Mexico, Albuquerque, NM, USA.
S H SubramonyDepartment of Neurology, McKnight Brain Institute, University of Florida, Gainsville, FL, USA.
Tetsuo AshizawaHouston Methodist Research Institute, Houston, TX, USA.
Sheng-Han KuoDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: sk3295@columbia.edu.
Columbia University · USUniversity of Michigan–Ann Arbor · USUniversity of Utah · USBuddhist Tzu Chi General Hospital · TWEmory University · USFirst Affiliated Hospital of Fujian Medical University · CNHouston Methodist · USJohns Hopkins University · USMassachusetts General Hospital · USNanjing Medical University · CNTzu Chi University · TWUniversity of California, Los Angeles · USUniversity of California, San Francisco · USUniversity of Chicago · USUniversity of Florida · USUniversity of Minnesota · USUniversity of New Mexico · USUniversity of South Florida · US

Funding

True Metal fac coreP30ES009089 · NIEHS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MATTHEW S PERZANOWSKI · 1998 to 2026
$44.7M
Clinical Research Consortium for Spinocerebellar AtaxiasRC1NS068897 · NINDS · UNIVERSITY OF FLORIDA · PI ASHIZAWA, TETSUO · 2009 to 2010
$1.0M
The role of glucocerebrosidase and chaperone_mediated autophagy in Parkinsons disK08NS083738 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KUO, SHENG-HAN · 2013 to 2017
$940k
NIEHS NIH HHS P30 ES009089NINDS NIH HHS K08 NS083738NINDS NIH HHS RC1 NS068897
6 · The paper itself

Abstract

backgroundDystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.

objectivesTo study clinical characteristics and ataxia progression in SCAs with and without dystonia.

methodsWe studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia. We repeatedly measured ataxia progression by the Scale for Assessment and Rating of Ataxia every 6 months for 2 years. Regression models were employed to study the association between dystonia and ataxia progression after adjusting for age, sex and pathological CAG repeats. We used logistic regression to analyze the impact of different repeat expansion genes on dystonia in SCAs.

resultsDystonia was most commonly observed in SCA3, followed by SCA2, SCA1, and SCA6. Dystonia was associated with longer CAG repeats in SCA3. The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. The presence of dystonia was associated with higher SARA scores in SCA1, 2, and 3. Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia.

conclusionsThe presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6. Complex genetic interactions among repeat expansion genes can lead to diverse clinical symptoms and progression in SCAs.

Indexed as

Disease ProgressionAdultCohort StudiesDystoniaFemaleHumansMaleMiddle AgedSpinocerebellar AtaxiasDystoniaModifierSpinocerebellar ataxiaTrinucleotide repeat

Identifiers

PMID29089256
PMCPMC6089251
OpenAlexW2765778301

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

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.