Thomas Theodosiou, Foteini Christidi, Sofia Xirou, Efstratios Karavasilis, Peter Bede, Constantinos Papadopoulos, Georgios D Argyropoulos, Panagiotis Kourtesis, Varvara Pantolewn, Panagiotis Ferentinos, Evangelia Kararizou, Georgios Velonakis, Ioannis Zalonis, Georgios Papadimas
{"title":"2型肌营养不良的执行功能障碍、社会认知障碍和灰质病理学:一项初步研究。","authors":"Thomas Theodosiou, Foteini Christidi, Sofia Xirou, Efstratios Karavasilis, Peter Bede, Constantinos Papadopoulos, Georgios D Argyropoulos, Panagiotis Kourtesis, Varvara Pantolewn, Panagiotis Ferentinos, Evangelia Kararizou, Georgios Velonakis, Ioannis Zalonis, Georgios Papadimas","doi":"10.1097/WNN.0000000000000314","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>In contrast to myotonic dystrophy type 1, the cognitive and radiologic profile of myotonic dystrophy type 2 (DM2) is relatively poorly characterized.</p><p><strong>Objective: </strong>To conduct a pilot study to systematically evaluate cognitive and radiologic features in a cohort of Greek individuals with DM2.</p><p><strong>Method: </strong>Eleven genetically confirmed individuals with DM2 and 26 age- and education-matched healthy controls were administered the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS) to screen for impairment in multiple cognitive domains. MRI data were evaluated by morphometric analyses to identify disease-specific gray and white matter alterations. The following statistical thresholds were used for cognitive comparisons: PFDR < 0.05 and Bayes factor (BF 10 ) >10.</p><p><strong>Results: </strong>The DM2 group exhibited cognitive impairment (ECAS Total score; PFDR = 0.001; BF 10 = 108.887), which was dominated by executive impairment ( PFDR = 0.003; BF 10 = 25.330). A trend toward verbal fluency impairment was also identified. No significant impairments in memory, language, or visuospatial function were captured. The analysis of subscores revealed severe impairments in social cognition and alternation. Voxel-based morphometry identified widespread frontal, occipital, and subcortical gray matter atrophy, including the left superior medial frontal gyrus, right medial orbitofrontal gyrus, right operculum, right precuneus, bilateral fusiform gyri, and bilateral thalami.</p><p><strong>Conclusion: </strong>DM2 may be associated with multifocal cortical and thalamic atrophy, which is likely to underpin the range of cognitive manifestations mostly characterized by executive impairment and specifically by impaired social cognition.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":" ","pages":"204-211"},"PeriodicalIF":16.4000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Executive Dysfunction, Social Cognition Impairment, and Gray Matter Pathology in Myotonic Dystrophy Type 2: A Pilot Study.\",\"authors\":\"Thomas Theodosiou, Foteini Christidi, Sofia Xirou, Efstratios Karavasilis, Peter Bede, Constantinos Papadopoulos, Georgios D Argyropoulos, Panagiotis Kourtesis, Varvara Pantolewn, Panagiotis Ferentinos, Evangelia Kararizou, Georgios Velonakis, Ioannis Zalonis, Georgios Papadimas\",\"doi\":\"10.1097/WNN.0000000000000314\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>In contrast to myotonic dystrophy type 1, the cognitive and radiologic profile of myotonic dystrophy type 2 (DM2) is relatively poorly characterized.</p><p><strong>Objective: </strong>To conduct a pilot study to systematically evaluate cognitive and radiologic features in a cohort of Greek individuals with DM2.</p><p><strong>Method: </strong>Eleven genetically confirmed individuals with DM2 and 26 age- and education-matched healthy controls were administered the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS) to screen for impairment in multiple cognitive domains. MRI data were evaluated by morphometric analyses to identify disease-specific gray and white matter alterations. The following statistical thresholds were used for cognitive comparisons: PFDR < 0.05 and Bayes factor (BF 10 ) >10.</p><p><strong>Results: </strong>The DM2 group exhibited cognitive impairment (ECAS Total score; PFDR = 0.001; BF 10 = 108.887), which was dominated by executive impairment ( PFDR = 0.003; BF 10 = 25.330). A trend toward verbal fluency impairment was also identified. No significant impairments in memory, language, or visuospatial function were captured. The analysis of subscores revealed severe impairments in social cognition and alternation. 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Executive Dysfunction, Social Cognition Impairment, and Gray Matter Pathology in Myotonic Dystrophy Type 2: A Pilot Study.
Background: In contrast to myotonic dystrophy type 1, the cognitive and radiologic profile of myotonic dystrophy type 2 (DM2) is relatively poorly characterized.
Objective: To conduct a pilot study to systematically evaluate cognitive and radiologic features in a cohort of Greek individuals with DM2.
Method: Eleven genetically confirmed individuals with DM2 and 26 age- and education-matched healthy controls were administered the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS) to screen for impairment in multiple cognitive domains. MRI data were evaluated by morphometric analyses to identify disease-specific gray and white matter alterations. The following statistical thresholds were used for cognitive comparisons: PFDR < 0.05 and Bayes factor (BF 10 ) >10.
Results: The DM2 group exhibited cognitive impairment (ECAS Total score; PFDR = 0.001; BF 10 = 108.887), which was dominated by executive impairment ( PFDR = 0.003; BF 10 = 25.330). A trend toward verbal fluency impairment was also identified. No significant impairments in memory, language, or visuospatial function were captured. The analysis of subscores revealed severe impairments in social cognition and alternation. Voxel-based morphometry identified widespread frontal, occipital, and subcortical gray matter atrophy, including the left superior medial frontal gyrus, right medial orbitofrontal gyrus, right operculum, right precuneus, bilateral fusiform gyri, and bilateral thalami.
Conclusion: DM2 may be associated with multifocal cortical and thalamic atrophy, which is likely to underpin the range of cognitive manifestations mostly characterized by executive impairment and specifically by impaired social cognition.
期刊介绍:
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.