Evidence map›Paper›PMID 40679574›Full record

ArticleCerebellum (London, England)2025

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Leigh A Rettenmaier, Jin Yun Helen Chen, Jason MacMore, Anoopum S Gupta, Chih-Chun Lin, Christopher D Stephen, David Pellerin, Bernard Brais, Jeremy D Schmahmann

Abstract read
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. 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

9 authors.

Leigh A RettenmaierAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
Jin Yun Helen ChenAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
Jason MacMoreAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
Anoopum S GuptaAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
Chih-Chun LinAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
Christopher D StephenAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA.
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Jeremy D SchmahmannAtaxia Center, Department of Neurology, Mass General Brigham and Harvard Medical School, 101 Merrimac Street, Suite 310, Boston, MA, 02114, USA. jschmahmann@mgh.harvard.edu.

Funding

CIHR 189963
6 · The paper itself

Abstract

Spinocerebellar Ataxia type 27B (SCA27B) is caused by an intronic GAA repeat expansion in the fibroblast growth factor 14 (FGF14) gene. The core clinical phenotype is a slowly progressive, adult-onset cerebellar ataxia, often with downbeat nystagmus (DBN) and episodic worsening. We tested whether clinical phenotyping could predict this genetic disorder. We screened the Massachusetts General Hospital Ataxia Center registry (n = 3,182) for patients with a) isolated DBN, b) DBN with ataxia, and c) autosomal dominant cerebellar ataxia (ADCA) that had eluded genetic diagnosis. Patient histories, examinations, and imaging were reviewed. Genetic analysis for FGF14 expansion was performed. Of 65 identified patients, 39 completed genetic testing. Among 14 with isolated DBN, 9 carried an FGF14 repeat expansion (GAA)

Indexed as

Fibroblast Growth FactorsSpinocerebellar AtaxiasSpinocerebellar DegenerationsAdolescentAdultAgedFemaleGenetic TestingHospitals, GeneralHumansMaleMassachusettsMiddle AgedPhenotypeYoung Adultfibroblast growth factor 14Fibroblast Growth FactorsDownbeat nystagmusEpisodic ataxiaFGF14-GAARegistrySCA27BVestibular ataxia

Identifiers

PMID40679574

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.