Evidence map›Paper›PMID 39820777›Full record

ArticleCerebellum (London, England)2025

ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.

Aurelio Jara-Prado, Eukeni Arias-Capistran, Jorge Guerrero-Camacho, Adriana Ochoa-Morales, Marie Catherine Boll, David Dávila-Ortíz de Montellano, Astrid Rasmussen, Tetsuo Ashizawa, Juan Fernandez-Ruiz, Petra Yescas-Gómez and 1 more

Abstract read
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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
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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

11 authors.

Aurelio Jara-PradoGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Eukeni Arias-CapistranGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Jorge Guerrero-CamachoGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Adriana Ochoa-MoralesGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Marie Catherine BollClinical Research Laboratory, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Mexico City, Mexico.
David Dávila-Ortíz de MontellanoGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Astrid RasmussenOklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Tetsuo AshizawaThe Houston Methodist Hospital, Houston, TX, USA.
Juan Fernandez-RuizDepartment of Physiology, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
Petra Yescas-GómezGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Miguel Ángel Ramírez-GarcíaGenetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico. miguel.ramirez@innn.edu.mx.ORCID http://orcid.org/0000-0003-3221-3636

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance. Because the diagnostic overlaps with other ataxias, molecular diagnosis is essential. This cross-sectional study conducted a retrospective review and analysis of 183 DNA samples from a laboratory registry of patients with ataxia who were suspected of having AD ataxia (n = 86; negative for ATXN1, ATXN2, ATXN3, ATXN7, TBP, and ATN1 genes) or sporadic ataxia (n = 97). Triplet repeat-primed PCR (TP-PCR) was performed to identify ATXN10 gene expansions. 19.6% (n = 36) of the samples showed ATXN10 expansions, with a higher proportion of hereditary AD cases (30.2%; n = 26) compared to sporadic cases (10.3%; n = 10). Clinical information was available in only 23 registries, with manifestations predominantly including cerebellar signs, but notably not epilepsy. The frequency of SCA10 in our country underlines the need to change the diagnostic suspicion, as the absence of epilepsy challenges previous diagnostic assumptions. As this is a study from a laboratory registry, we are aware of certain limitations.

Indexed as

Ataxin-10Spinocerebellar AtaxiasTrinucleotide Repeat ExpansionAdolescentAdultAgedCross-Sectional StudiesDNA Repeat ExpansionEpilepsyFemaleHumansMaleMexicoMiddle AgedRetrospective StudiesYoung AdultAtaxin-10ATXN10 protein, humanAtaxiaATXN10 geneEpilepsyMexicoSpinocerebellar ataxia type 10

Identifiers

PMID39820777

What OpenQuestion holds

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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.