Evidence map›Paper›PMID 40679685›Full record

ReviewCerebellum (London, England)2025

The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).

Yicheng Lin, Nadia Amokrane, Sandie Worley, Lauren R Moore, Andrew Rosen, Laura P Crespo, Kelsey Trace, Tetsuo Ashizawa, Andrew Billnitzer, Susan Perlman and 36 more

Erratum issued Registry-linked trialAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT01060371 (Clinical Research Consortium for the Study of Cerebellar Ataxias), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

46 authors.

Yicheng LinDepartment of Neurology, Columbia University Irving Medical Center and the New York Presbyterian Hospital, New York, NY, USA.ORCID http://orcid.org/0009-0000-6652-119X
Nadia AmokraneDepartment of Neurology, Columbia University Irving Medical Center and the New York Presbyterian Hospital, New York, NY, USA.
Sandie WorleyDepartment of Neurology, Columbia University Irving Medical Center and the New York Presbyterian Hospital, New York, NY, USA.
Lauren R MooreNational Ataxia Foundation, Minneapolis, MN, USA.
Andrew RosenNational Ataxia Foundation, Minneapolis, MN, USA.
Laura P CrespoNational Ataxia Foundation, Minneapolis, MN, USA.
Kelsey TraceNational Ataxia Foundation, Minneapolis, MN, USA.
Tetsuo AshizawaHouston Methodist Research Institute, Houston, TX, USA.
Andrew BillnitzerHouston Methodist Research Institute, Houston, TX, USA.
Susan PerlmanDepartment of Neurology, University of California Los Angeles, Los Angeles, CA, USA.
Aaron FisherDepartment of Neurology, University of California Los Angeles, Los Angeles, CA, USA.
Khalaf BusharaDepartment of Neurology, University of Minnesota, Minneapolis, MN, USA.
Michael D GeschwindDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Cameron DietikerDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Christopher M GomezDepartment of Neurology, University of Chicago, Chicago, IL, USA.
Mahesh PadmanabanDepartment of Neurology, University of Chicago, Chicago, IL, USA.
Puneet OpalDenning Ataxia Center, Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Rizwan S AkhtarDenning Ataxia Center, Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Henry PaulsonDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Sharan SrinivasanDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Amy FerngDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Frank FerrariDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Chiadi U OnyikeDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA.
Ann FishmanDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA.
Sarah YingDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Ashley PaulDepartment of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Jeremy D SchmahmannAtaxia Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Christopher D StephenAtaxia Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Anoopum GuptaAtaxia Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Chih-Chun LinAtaxia Center, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
S H SubramonyDepartment of Neurology, University of Florida, Gainesville, FL, USA.
Matthew BurnsDepartment of Neurology, University of Florida, Gainesville, FL, USA.
George WilmotDepartment of Neurology, Emory University, Atlanta, GA, USA.
Antoine DuquetteCentre Hospitalier de l'Université de Montréal, University of Montreal, Montreal, QC, Canada.
Theresa ZesiewiczDepartment of Neurology, University of South Florida, Tampa, FL, USA.
Marie Y DavisDepartment of Neurology, University of Washington, Seattle, WA, USA.
Ali G HamedaniDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Joaquin A VizcarraDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Stefan M PulstDepartment of Neurology, University of Utah, Salt Lake City, UT, USA.
Sharon PrimeauxDepartment of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Christian RummeyClinical Data Science GmbH, Basel, Switzerland.
Gülin ÖzCenter for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
Vikram G Shakkottai *Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA. Vikram.Shakkottai@UTSouthwestern.edu.
Liana S Rosenthal *Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA. Liana.Rosenthal@jhmi.edu.
Sheng-Han Kuo *Department of Neurology, Columbia University Irving Medical Center and the New York Presbyterian Hospital, New York, NY, USA. sk3295@cumc.columbia.edu.
CRC-SCA Consortium

Funding

Supplementary funding for U01NS104326 Clinical Trial Readiness for SCA1 and SCA3 (“READISCA”)U01NS104326 · NINDS · METHODIST HOSPITAL RESEARCH INSTITUTE · PI ASHIZAWA, TETSUO, OZ, GULIN · 2018 to 2022
$6.1M
Ataxin-2 complex proteins in neurodegeneration.R35NS127253 · NINDS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Stefan M. PULST · 2022 to 2026
$4.6M
Advanced 3T for Structural and Functional Imaging at University of FloridaS10OD021726 · OD · UNIVERSITY OF FLORIDA · PI LONG, JOANNA R · 2017 to 2017
$2.0M
Cognitive and Affective Network Dysfunction and Neuromodulation in Aging and SynucleinopathyK08AG071983 · NIA · UNIVERSITY OF FLORIDA · PI BURNS, MATTHEW ROBERT · 2021 to 2025
$772k
NIA NIH HHS K08 AG071983NIH HHS S10 OD021726NINDS NIH HHS R35 NS127253NINDS NIH HHS U01 NS104326
6 · The paper itself

Abstract

Hereditary ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Since 2009, the Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA) has studied the natural history of common types of spinocerebellar ataxias (SCAs). The CRC-SCA is a 17-site academic collaboration supported by the National Ataxia Foundation. In 2024, the CRC-SCA expanded its scope by incorporating newly identified late-onset ataxias, including repeat expansion mutations in RFC1 and FGF14 causing Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) and SCA27B, respectively. These ongoing efforts have enriched the understanding of disease progression and facilitated access to biofluid and neuroimaging data for biomarker discovery, setting the stage for therapeutic development in hereditary ataxias. The CRC-SCA's natural history study and biomarker collection have validated several clinical outcome assessments (COAs) to capture important aspects of hereditary ataxias. We have also developed new COAs for cognitive and patient-reported outcome measures. A key component of the study includes biofluid collection-cerebrospinal fluid, plasma, and serum-to identify molecular biomarkers for disease progression and therapeutic response. Additionally, an incorporated magnetic resonance imaging (MRI) substudy provides critical imaging biomarkers, enhancing our ability to track macro- and microstructural, chemical and functional changes in the cerebellum and relate these to clinical presentations. The comprehensive, longitudinal dataset comprising COAs, biofluid biomarkers, and neuroimaging enhances clinical trial readiness in the field and accelerates therapeutic advancements for hereditary ataxias. This review highlights the collective efforts of CRC-SCA, details the study protocol, and emphasizes the integrity and specificity of the collected data elements.

Indexed as

Cerebellar AtaxiaBiomarkersDisease ProgressionHumansBiomarkersBiomarkerCerebellar ataxiasNatural history study

Identifiers

PMID40679685
PMCPMC12990890

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.