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...
| Authors: | ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; |
|---|---|
| Format: | Article |
| Publication date: | 2025 |
| Country: | España |
| Institution: | Universidad del País Vasco |
| Repository: | Addi. Archivo Digital para la Docencia y la Investigación |
| OAI Identifier: | oai:addi.ehu.eus:10810/72675 |
| Online Access: | http://hdl.handle.net/10810/72675 |
| Access Level: | Open access |
| Keyword: | Huntington disease cognition pre-manifest reduced penetrance visual cognition |
| _version_ | 1878731140155572224 |
|---|---|
| author | Del Pino Sáez, Rocío |
| 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 |
| author_browse | Acera Gil, María Ángeles Ayo Mentxakatorre, Naia Croitoru, Ioana M. Del Pino Sáez, Rocío Fernández Valle, Tamara Gabilondo Cuellar, Iñigo Gabilondo, Andrea Gómez Esteban, Juan Carlos Murueta-Goyena Larrañaga, Ane Ortiz de Echevarria, Amaia Pardina, Lara Ruiz López, Marta Ruiz Martínez, Javier Somme, Johanne Sánchez Pernaute, Rosario Tijero Merino, Beatriz |
| 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 |
| collection | Addi. Archivo Digital para la Docencia y la Investigación |
| 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | ES_29b3d2ffaab17e644c5b8b8b242bfb21 |
| institution | Universidad del País Vasco |
| instname_str | Universidad del País Vasco |
| network_acronym_str | ES |
| network_name_str | España |
| oai_identifier_str | oai:addi.ehu.eus:10810/72675 |
| publishDate | 2025 |
| publishDateSort | 2025 |
| publisher | Nature |
| publisherStr | Nature |
| reponame_str | Addi. Archivo Digital para la Docencia y la Investigación |
| spelling | Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease 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 Huntington disease cognition pre-manifest reduced penetrance visual cognition 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. 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). Nature http://hdl.handle.net/10810/72675 |
| 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 | 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_short | 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 |
| topic | Huntington disease cognition pre-manifest reduced penetrance visual cognition |
| topic_facet | Huntington disease cognition pre-manifest reduced penetrance visual cognition |
| url | http://hdl.handle.net/10810/72675 |