Evidence map›Paper›PMID 39263992›Full record

ArticleAnnals of neurology2024

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, Sonya L Watson, Darice Y Wong, Veronica S Avila, Megan Delfeld, Alexander J Gary, Sanjukta Tawde, Malia Triebold and 23 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 2 pooled it
–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.

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

19 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  7. Article
  8. Monoallelic ATP7B variants in adult-onset cerebellar ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  9. Article
  10. Review
  11. GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
  16. Review
  17. Review
  18. TheBrain communications · 2025
    Article
  19. Article
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

33 authors.

Widad Abou ChaarDepartment of Neurology, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.ORCID 0000-0003-2275-907X
Anirudh N ErankiDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Hannah A StevensDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Sonya L WatsonDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Darice Y WongDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Veronica S AvilaDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Megan DelfeldMolecular Diagnostic Laboratory, University of Chicago, Chicago, Illinois, USA.
Alexander J GaryMolecular Diagnostic Laboratory, University of Chicago, Chicago, Illinois, USA.
Sanjukta TawdeMolecular Diagnostic Laboratory, University of Chicago, Chicago, Illinois, USA.
Malia TrieboldMolecular Diagnostic Laboratory, University of Chicago, Chicago, Illinois, USA.
Marcello CherchiDepartment of Neurology, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.
Tao XieDepartment of Neurology, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.ORCID 0000-0001-9551-6613
Paul J LockhartBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.ORCID 0000-0003-2531-8413
Melanie BahloAustralian Genome Research Facility, Walter and Eliza Hall Institute, Parkville, Victoria, Australia.
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-5807-995X
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Matt DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Bernard C BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
Susan PerlmanDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Margit BurmeisterDepartment of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, Michigan Neuroscience Institute, University of Michigan, Ann Arbor, Michigan, USA.ORCID 0000-0002-1914-2434
Henry PaulsonDepartment of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Sharan SrinivasanDepartment of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Lawrence SchutThe Bob Allison Ataxia Clinic, University of Minnesota, Minneapolis, Minnesota, USA.
Matthew BowerThe Bob Allison Ataxia Clinic, University of Minnesota, Minneapolis, Minnesota, USA.
Khalaf BusharaThe Bob Allison Ataxia Clinic, University of Minnesota, Minneapolis, Minnesota, USA.
Chuanhong LiaoDepartment of Public Health Sciences, University of Chicago, Chicago, Illinois, USA.
Vikram G ShakkottaiDepartment of Neurology and O'Donnell Brain Institute, UT Southwestern Medical Center, Dallas, Texas, USA.
John CollinsDepartment of Radiology, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.
H Brent ClarkDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA.
Soma DasDepartment of Human Genetics, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.
Brent L FogelDepartment of Neurology, David Geffen School of Medicine, University of California at Los Angeles, California, Los Angeles, USA.
Christopher M GomezDepartment of Neurology, University of Chicago Biological Sciences Division, Chicago, Illinois, USA.

Funding

Demystifying Disorders of Bicistronic Calcium Channel GenesR35NS116868 · NINDS · UNIVERSITY OF CHICAGO · PI Christopher Manuel Gomez · 2020 to 2026
$7.5M
Mechanisms of neurodegenerative diseases: intersections with ubiquitin pathwaysR35NS122302 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Henry L Paulson · 2021 to 2026
$6.4M
Ataxia gene identification by integrated genomic analysisR01NS078560 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BURMEISTER, MARGIT, LI, JUN · 2012 to 2015
$2.1M
CIHRNational Ataxia FoundationNIH R01 NS078560NINDS NIH HHS R01 NS078560NINDS NIH HHS R35 NS116868NINDS NIH HHS R35 NS122302NINDS R35NS116868Raynor Cerebellum project
6 · The paper itself

Abstract

objectivesSpinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4-aminopyridine in a cohort of 102 patients bearing GAA repeat expansions.

methodsWe compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States. Clinical manifestations and patient demographics were collected retrospectively from clinical records in an unblinded approach using a standardized form. Post-mortem analysis was done on 4 brains of patients with genetically confirmed SCA27B.

resultsIn our cohort of 102 patients with SCA27B, we found that SCA27B was a late-onset (57 ± 12.5 years) slowly progressive ataxia with an episodic component in 51% of patients. Balance and gait impairment were almost always present at disease onset. The principal finding on post-mortem examination of 4 brain specimens was loss of Purkinje neurons that was most severe in the vermis most particularly in the anterior vermis. Similar to European populations, a high percent of patients 21/28 (75%) reported a positive treatment response with 4-aminopyridine.

interpretationOur study further estimates prevalence and further expands the clinical, imaging and pathological features of SCA27B, while looking at treatment response, disease progression, and survival in patients with this disease. Testing for SCA27B should be considered in all undiagnosed ataxia patients, especially those with episodic onset. ANN NEUROL 2024;96:1092-1103.

Indexed as

Spinocerebellar Ataxias4-AminopyridineAdultAgedBrainCohort StudiesDisease ProgressionFemaleFibroblast Growth FactorsHumansMaleMiddle AgedPurkinje CellsRetrospective StudiesTrinucleotide Repeat ExpansionUnited States4-Aminopyridinefibroblast growth factor 14Fibroblast Growth Factors

Identifiers

PMID39263992
PMCPMC11563892

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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.