Evidence map›Paper›PMID 40835733›Full record

ArticleJournal of human genetics2025

Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?

Pannaga Prasad G, Aleksandra Makarova, Kandasamy Kathirvel, Suleyman Gulsuner, Tomas Walsh, Shreevidya Parthaje, Chinu Patra, Bhagyalakshmi Shankarappa, Shridhar Utagi, Vaishnavi Desai and 9 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

19 authors.

Pannaga Prasad GMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Aleksandra MakarovaMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Kandasamy KathirvelMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Suleyman GulsunerDepartment of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Tomas WalshDepartment of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Shreevidya ParthajeMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Chinu PatraMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Bhagyalakshmi ShankarappaMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Shridhar UtagiMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Vaishnavi DesaiDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Vikram HollaDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.ORCID http://orcid.org/0000-0002-3634-2219
Nitish KambleDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Ravi YadavDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Biju ViswanathMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Marie-Claire KingDepartment of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Sanjeev JainMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.ORCID http://orcid.org/0000-0002-9508-351X
Pramod Kumar PalDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.ORCID http://orcid.org/0000-0002-4085-2377
Meera PurushottamMolecular Genetics Laboratory, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India. meera.purushottam@gmail.com.ORCID http://orcid.org/0000-0002-4000-268X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia (SCA27B), due to an intronic GAA repeat expansion in the FGF14 gene, has been described recently. We screened DNA samples for expanded FGF14 GAA repeats in individuals with movement disorder (N = 526) in our laboratory at NIMHANS, Bengaluru, India. Clinically pathogenic repeat expansions of FGF14 (GAA) were detected in 14 of 526 patients (2.6%); seven with (GAA)

Indexed as

Fibroblast Growth FactorsGenes, ModifierSpinocerebellar AtaxiasTrinucleotide Repeat ExpansionAdolescentAdultAllelesChildChild, PreschoolFemaleHumansIndiaMaleMiddle AgedMutationPhenotypefibroblast growth factor 14Fibroblast Growth Factors

Identifiers

PMID40835733

What OpenQuestion holds

Textmetadata
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.