Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease

Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 manifest, and 6 reduced penetrance) and 78 health...

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Autores: Del Pino Sáez, Rocío, Acera Gil, María Ángeles, Ortiz de Echevarria, Amaia, Tijero Merino, Beatriz, Ruiz López, Marta, Somme, Johanne, Ruiz Martínez, Javier, Gabilondo, Andrea, Croitoru, Ioana M., Pardina, Lara, Ayo Mentxakatorre, Naia, Murueta-Goyena Larrañaga, Ane, Gabilondo Cuellar, Iñigo, Sánchez Pernaute, Rosario, Fernández Valle, Tamara, Gómez Esteban, Juan Carlos
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Universidad del País Vasco
Repositorio:Addi. Archivo Digital para la Docencia y la Investigación
OAI Identifier:oai:addi.ehu.eus:10810/72675
Acceso en línea:http://hdl.handle.net/10810/72675
Access Level:acceso abierto
Palabra clave:Huntington disease
cognition
pre-manifest
reduced penetrance
visual cognition
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spelling Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s diseaseDel Pino Sáez, RocíoAcera Gil, María ÁngelesOrtiz de Echevarria, AmaiaTijero Merino, BeatrizRuiz López, MartaSomme, JohanneRuiz Martínez, JavierGabilondo, AndreaCroitoru, Ioana M.Pardina, LaraAyo Mentxakatorre, NaiaMurueta-Goyena Larrañaga, AneGabilondo Cuellar, IñigoSánchez Pernaute, RosarioFernández Valle, TamaraGómez Esteban, Juan CarlosHuntington diseasecognitionpre-manifestreduced penetrancevisual cognitionCognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 manifest, and 6 reduced penetrance) and 78 healthy controls (HC). Significant differences in visual memory were observed between reduced penetrance and pre-manifest groups (p = .003), with pre-manifest showing worse performance. Age, education, CAG repeats, motor status, executive function, and verbal fluency, accounted for up to 72.8% of the variance in general and visual cognitive functions, with motor status having the strongest impact on visual domains in HD carriers. In pre-manifest HD, visual cognitive domains were primarily influenced by executive function, verbal fluency, age, and CAG repeats, while in early and manifest stages motor status and verbal fluency becomes more influential. ROC analyses showed that especially visuospatial abilities, visual memory, and visual attention (AUC = 0.927, 0.878, 0.874, respectively) effectively differentiated HC and pre-manifest from early and manifest HD. Early assessment of visual cognitive domains, particularly visual memory, could be an early marker of cognitive decline in HD. Our findings highlight the different profiles of impairment in visual cognition across HD carriers.This research has been partially funded by the EITB Maratoia call for Rare Diseases (BIO17/ND/009) and by the Health Department of the Basque Government (2019111004).Nature202520252025info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10810/72675reponame:Addi. Archivo Digital para la Docencia y la Investigacióninstname:Universidad del País VascoIngléshttps://www.nature.com/articles/s41598-025-88406-5info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/3.0/es/© The Author(s) 2025. This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License,Atribución-NoComercial-SinDerivadas 3.0 Españaoai:addi.ehu.eus:10810/726752026-06-18T09:23:17Z
dc.title.none.fl_str_mv Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
title Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
spellingShingle Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
Del Pino Sáez, Rocío
Huntington disease
cognition
pre-manifest
reduced penetrance
visual cognition
title_short Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
title_full Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
title_fullStr Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
title_full_unstemmed Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
title_sort Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
dc.creator.none.fl_str_mv Del Pino Sáez, Rocío
Acera Gil, María Ángeles
Ortiz de Echevarria, Amaia
Tijero Merino, Beatriz
Ruiz López, Marta
Somme, Johanne
Ruiz Martínez, Javier
Gabilondo, Andrea
Croitoru, Ioana M.
Pardina, Lara
Ayo Mentxakatorre, Naia
Murueta-Goyena Larrañaga, Ane
Gabilondo Cuellar, Iñigo
Sánchez Pernaute, Rosario
Fernández Valle, Tamara
Gómez Esteban, Juan Carlos
author Del Pino Sáez, Rocío
author_facet Del Pino Sáez, Rocío
Acera Gil, María Ángeles
Ortiz de Echevarria, Amaia
Tijero Merino, Beatriz
Ruiz López, Marta
Somme, Johanne
Ruiz Martínez, Javier
Gabilondo, Andrea
Croitoru, Ioana M.
Pardina, Lara
Ayo Mentxakatorre, Naia
Murueta-Goyena Larrañaga, Ane
Gabilondo Cuellar, Iñigo
Sánchez Pernaute, Rosario
Fernández Valle, Tamara
Gómez Esteban, Juan Carlos
author_role author
author2 Acera Gil, María Ángeles
Ortiz de Echevarria, Amaia
Tijero Merino, Beatriz
Ruiz López, Marta
Somme, Johanne
Ruiz Martínez, Javier
Gabilondo, Andrea
Croitoru, Ioana M.
Pardina, Lara
Ayo Mentxakatorre, Naia
Murueta-Goyena Larrañaga, Ane
Gabilondo Cuellar, Iñigo
Sánchez Pernaute, Rosario
Fernández Valle, Tamara
Gómez Esteban, Juan Carlos
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Huntington disease
cognition
pre-manifest
reduced penetrance
visual cognition
topic Huntington disease
cognition
pre-manifest
reduced penetrance
visual cognition
description Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 manifest, and 6 reduced penetrance) and 78 healthy controls (HC). Significant differences in visual memory were observed between reduced penetrance and pre-manifest groups (p = .003), with pre-manifest showing worse performance. Age, education, CAG repeats, motor status, executive function, and verbal fluency, accounted for up to 72.8% of the variance in general and visual cognitive functions, with motor status having the strongest impact on visual domains in HD carriers. In pre-manifest HD, visual cognitive domains were primarily influenced by executive function, verbal fluency, age, and CAG repeats, while in early and manifest stages motor status and verbal fluency becomes more influential. ROC analyses showed that especially visuospatial abilities, visual memory, and visual attention (AUC = 0.927, 0.878, 0.874, respectively) effectively differentiated HC and pre-manifest from early and manifest HD. Early assessment of visual cognitive domains, particularly visual memory, could be an early marker of cognitive decline in HD. Our findings highlight the different profiles of impairment in visual cognition across HD carriers.
publishDate 2025
dc.date.none.fl_str_mv 2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10810/72675
url http://hdl.handle.net/10810/72675
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://www.nature.com/articles/s41598-025-88406-5
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
Atribución-NoComercial-SinDerivadas 3.0 España
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/3.0/es/
Atribución-NoComercial-SinDerivadas 3.0 España
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature
publisher.none.fl_str_mv Nature
dc.source.none.fl_str_mv reponame:Addi. Archivo Digital para la Docencia y la Investigación
instname:Universidad del País Vasco
instname_str Universidad del País Vasco
reponame_str Addi. Archivo Digital para la Docencia y la Investigación
collection Addi. Archivo Digital para la Docencia y la Investigación
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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