Miriam Turuelo, R. Pino, M. Acera, M. Díez-Cirarda, T. Fernández, B. Tijero, M. Carmona, Marta Ruíz, J. Sømme, J. Ruiz‐Martinez, A. Gabilondo, I. Croitoru, Lara Pardina, Naia Ayo, Ane Murueta-Goyen, I. Gabilondo, J. Gómez-Esteban
{"title":"F15无症状和症状性亨廷顿舞蹈病(HD)携带者的视觉认知障碍","authors":"Miriam Turuelo, R. Pino, M. Acera, M. Díez-Cirarda, T. Fernández, B. Tijero, M. Carmona, Marta Ruíz, J. Sømme, J. Ruiz‐Martinez, A. Gabilondo, I. Croitoru, Lara Pardina, Naia Ayo, Ane Murueta-Goyen, I. Gabilondo, J. Gómez-Esteban","doi":"10.1136/jnnp-2021-ehdn.58","DOIUrl":null,"url":null,"abstract":"Background HD is an autosomal dominant, hereditary, and neurodegenerative disease that presents neurological, psychiatric, and cognitive impairment, with visual cognition being one of the affected areas. Aims This study aims to analyze the visual cognition profile of asymptomatic and symptomatic carriers of Huntington’s disease (HD), compared with healthy controls (HC), and to evaluate the differences between asymptomatic and symptomatic patients with different years of progression of HD. Methods We evaluated 99 participants, 51 HD carriers [17 asymptomatic, 13 symptomatic ( 5 years of evolution)] and 48 HC matched by sex and educational level. Motor function was rated with UHDRS scale, the general cognitive status was assessed with MoCA test, and a comprehensive battery of visual cognitive instruments was used. The following visual cognitive domains were assessed: visual memory, visuospatial skills and visuoconstructive abilities. One- way ANOVA and Tukey’s test for post hoc analysis were performed to analyze and compare the cognitive performance between the four groups. Results Statistically significant differences were found in the motor function (F(3.1)=14.129; p Conclusions Findings suggest that both symptomatic and asymptomatic HD patients present an increased visual cognitive impairment compared to HC. This impairment worsens with HD progression.","PeriodicalId":277670,"journal":{"name":"F: Clinical studies: case reports, oberservational studies and trials","volume":"17 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"F15 Visual-cognitive impairment in asymptomatic and symptomatic carriers of huntington’s disease (HD)\",\"authors\":\"Miriam Turuelo, R. Pino, M. Acera, M. Díez-Cirarda, T. Fernández, B. Tijero, M. Carmona, Marta Ruíz, J. Sømme, J. Ruiz‐Martinez, A. Gabilondo, I. Croitoru, Lara Pardina, Naia Ayo, Ane Murueta-Goyen, I. Gabilondo, J. Gómez-Esteban\",\"doi\":\"10.1136/jnnp-2021-ehdn.58\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background HD is an autosomal dominant, hereditary, and neurodegenerative disease that presents neurological, psychiatric, and cognitive impairment, with visual cognition being one of the affected areas. Aims This study aims to analyze the visual cognition profile of asymptomatic and symptomatic carriers of Huntington’s disease (HD), compared with healthy controls (HC), and to evaluate the differences between asymptomatic and symptomatic patients with different years of progression of HD. Methods We evaluated 99 participants, 51 HD carriers [17 asymptomatic, 13 symptomatic ( 5 years of evolution)] and 48 HC matched by sex and educational level. Motor function was rated with UHDRS scale, the general cognitive status was assessed with MoCA test, and a comprehensive battery of visual cognitive instruments was used. The following visual cognitive domains were assessed: visual memory, visuospatial skills and visuoconstructive abilities. One- way ANOVA and Tukey’s test for post hoc analysis were performed to analyze and compare the cognitive performance between the four groups. Results Statistically significant differences were found in the motor function (F(3.1)=14.129; p Conclusions Findings suggest that both symptomatic and asymptomatic HD patients present an increased visual cognitive impairment compared to HC. This impairment worsens with HD progression.\",\"PeriodicalId\":277670,\"journal\":{\"name\":\"F: Clinical studies: case reports, oberservational studies and trials\",\"volume\":\"17 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"F: Clinical studies: case reports, oberservational studies and trials\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/jnnp-2021-ehdn.58\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"F: Clinical studies: case reports, oberservational studies and trials","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/jnnp-2021-ehdn.58","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
F15 Visual-cognitive impairment in asymptomatic and symptomatic carriers of huntington’s disease (HD)
Background HD is an autosomal dominant, hereditary, and neurodegenerative disease that presents neurological, psychiatric, and cognitive impairment, with visual cognition being one of the affected areas. Aims This study aims to analyze the visual cognition profile of asymptomatic and symptomatic carriers of Huntington’s disease (HD), compared with healthy controls (HC), and to evaluate the differences between asymptomatic and symptomatic patients with different years of progression of HD. Methods We evaluated 99 participants, 51 HD carriers [17 asymptomatic, 13 symptomatic ( 5 years of evolution)] and 48 HC matched by sex and educational level. Motor function was rated with UHDRS scale, the general cognitive status was assessed with MoCA test, and a comprehensive battery of visual cognitive instruments was used. The following visual cognitive domains were assessed: visual memory, visuospatial skills and visuoconstructive abilities. One- way ANOVA and Tukey’s test for post hoc analysis were performed to analyze and compare the cognitive performance between the four groups. Results Statistically significant differences were found in the motor function (F(3.1)=14.129; p Conclusions Findings suggest that both symptomatic and asymptomatic HD patients present an increased visual cognitive impairment compared to HC. This impairment worsens with HD progression.