Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease
Abstract 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...
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Nature Portfolio
2025-02-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-025-88406-5 |
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| author | Rocio Del Pino Maria Ángeles Acera Amaia Ortiz de Echevarrría Beatriz Tijero Marta Ruiz-Lopez Johanne Somme Javier Ruiz-Martínez Andrea Gabilondo Ioana M. Croitoru Lara Pardina Naia Ayo-Mentxakatorre Ane Murueta-Goyena Iñigo Gabilondo Rosario Sanchez-Pernaute Tamara Fernández-Valle Juan Carlos Gómez Esteban |
| author_facet | Rocio Del Pino Maria Ángeles Acera Amaia Ortiz de Echevarrría Beatriz Tijero Marta Ruiz-Lopez Johanne Somme Javier Ruiz-Martínez Andrea Gabilondo Ioana M. Croitoru Lara Pardina Naia Ayo-Mentxakatorre Ane Murueta-Goyena Iñigo Gabilondo Rosario Sanchez-Pernaute Tamara Fernández-Valle Juan Carlos Gómez Esteban |
| author_sort | Rocio Del Pino |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-32a4c3ebcef142e393f96070af0717b4 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-32a4c3ebcef142e393f96070af0717b42025-02-09T12:30:47ZengNature PortfolioScientific Reports2045-23222025-02-0115111310.1038/s41598-025-88406-5Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s diseaseRocio Del Pino0Maria Ángeles Acera1Amaia Ortiz de Echevarrría2Beatriz Tijero3Marta Ruiz-Lopez4Johanne Somme5Javier Ruiz-Martínez6Andrea Gabilondo7Ioana M. Croitoru8Lara Pardina9Naia Ayo-Mentxakatorre10Ane Murueta-Goyena11Iñigo Gabilondo12Rosario Sanchez-Pernaute13Tamara Fernández-Valle14Juan Carlos Gómez Esteban15Neurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurology Department, Araba University HospitalNeurology Department, Donostia University HospitalOutpatient Mental Health Network of GipuzkoaNeurology Department, Donostia University HospitalNeurology Department, Donostia University HospitalNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteNeurodegenerative Diseases Group, Biobizkaia Health Research InstituteAbstract 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.https://doi.org/10.1038/s41598-025-88406-5Huntington diseaseCognitionPre-manifestReduced penetranceVisual cognition |
| spellingShingle | Rocio Del Pino Maria Ángeles Acera Amaia Ortiz de Echevarrría Beatriz Tijero Marta Ruiz-Lopez Johanne Somme Javier Ruiz-Martínez Andrea Gabilondo Ioana M. Croitoru Lara Pardina Naia Ayo-Mentxakatorre Ane Murueta-Goyena Iñigo Gabilondo Rosario Sanchez-Pernaute Tamara Fernández-Valle Juan Carlos Gómez Esteban Characterization of visual cognition in pre-manifest, manifest and reduced penetrance Huntington’s disease Scientific Reports 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 |
| url | https://doi.org/10.1038/s41598-025-88406-5 |
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