Evidence map›Paper›PMID 40128498›Full record

ArticleCerebellum (London, England)2025

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.

Thiago Yoshinaga Tonholo Silva, Vinícius Lopes Braga, Victor Rebelo Procaci, Luane Abdalla Gouvêa, Leonardo Furtado Freitas, Darine Christina Maia Villela, Michele Patricia Migliavacca, José Ricardo Magliocco Ceroni, André Macedo Serafim Silva, João Bosco Oliveira and 3 more

Abstract readCase Reports
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. 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

13 authors.

Thiago Yoshinaga Tonholo SilvaDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Vinícius Lopes BragaDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Victor Rebelo ProcaciDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Luane Abdalla GouvêaDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Leonardo Furtado FreitasDepartment of Radiology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Darine Christina Maia VillelaThe Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Michele Patricia MigliavaccaLaboratório Clínico, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
José Ricardo Magliocco CeroniLaboratório Clínico, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
André Macedo Serafim SilvaDepartment of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.
João Bosco OliveiraLaboratório Clínico, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Cláudia Ferreira da Rosa SobreiraDepartment of Neurosciences, Ribeirao Preto Medical School - Universidade de São Paulo, São Paulo, SP, Brazil.
Orlando Graziani Povoas BarsottiniDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil. orlandobarsottini@gmail.com.
José Luiz PedrosoDepartament of Neurology, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ANO10-related ataxia is characterized by cerebellar and pyramidal signs, with prominent oculomotor abnormalities, including saccadic abnormalities, strabismus, and ptosis. While nystagmus is frequently observed, the specific subtype of horizontal pendular nystagmus has not been emphasized. This report describes two siblings with early-onset spastic-ataxia with horizontal pendular nystagmus, ultimately diagnosed with SCAR10. This report details the ocular abnormalities spectrum of ANO10-related ataxia by highlighting horizontal pendular nystagmus as a significant clinical feature in early-onset presentations. We also restate the importance of neurological examination, including detailed assessment of ocular movements, for accurate diagnosis and management of hereditary ataxias.

Indexed as

AnoctaminsNystagmus, PathologicAdolescentChildFemaleHumansMaleAnoctaminsANO10 mutationsAutosomal recessive cerebellar ataxiaHereditary ataxiaOculomotor movement disordersPendular nystagmus

Identifiers

PMID40128498

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.