Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1
Background: Myotonic Dystrophy type 1 (DM1) is a slowly progressive myopathy characterized by varying multisystemic involvement. Several cerebral features such as brain atrophy, ventricular enlargement, and white matter lesions (WMLs) have frequently been described. The aim of this study is to inves...
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-01-01
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| Series: | NeuroImage: Clinical |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213158219304255 |
| _version_ | 1819113367409786880 |
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| author | Garazi Labayru Ibai Diez Jorge Sepulcre Esther Fernández Miren Zulaica Jesús M. Cortés Adolfo López de Munain Andone Sistiaga |
| author_facet | Garazi Labayru Ibai Diez Jorge Sepulcre Esther Fernández Miren Zulaica Jesús M. Cortés Adolfo López de Munain Andone Sistiaga |
| author_sort | Garazi Labayru |
| collection | DOAJ |
| description | Background: Myotonic Dystrophy type 1 (DM1) is a slowly progressive myopathy characterized by varying multisystemic involvement. Several cerebral features such as brain atrophy, ventricular enlargement, and white matter lesions (WMLs) have frequently been described. The aim of this study is to investigate the structural organization of the brain that defines the disease through multimodal imaging analysis, and to analyze the relation between structural cerebral changes and DM1 clinical and neuropsychological profiles. Method: 31 DM1 patients and 57 healthy controls underwent an MRI scan protocol, including T1, T2 and DTI. Global gray matter (GM), global white matter (WM), and voxel-level Voxel Based Morphometry (VBM) and voxel-level microstructural WM abnormalities through Diffusion Tensor Imaging (DTI) were assessed through group comparisons and linear regression analysis with age, degree of muscular impairment (MIRS score), CTG expansion size and neuropsychological outcomes from a comprehensive assessment. Results: Compared with healthy controls, DM1 patients showed a reduction in both global GM and WM volume; and further regional GM decrease in specific primary sensory, multi-sensory and association cortical regions. Fractional anisotropy (FA) was reduced in both total brain and regional analysis, being most marked in frontal, paralimbic, temporal cortex, and subcortical regions. Higher ratings on muscular impairment and longer CTG expansion sizes predicted a greater volume decrease in GM and lower FA values. Age predicted global GM reduction, specifically in parietal regions. At the cognitive level, the DM1 group showed significant negative correlations between IQ estimate, visuoconstructive and executive neuropsychological scores and both global and regional volume decrease, mainly distributed in the frontal, parietal and subcortical regions. Conclusions: In this study, we describe the structural brain signatures that delineate the involvement of the CNS in DM1. We show that specific sensory and multi-sensory — as well as frontal cortical areas — display potential vulnerability associated with the hypothesized neurodegenerative nature of DM1 brain abnormalities. Keywords: Myotonic Dystrophy Type 1, MRI, VBM, DTI, neuropsychology |
| first_indexed | 2024-12-22T04:28:17Z |
| format | Article |
| id | doaj.art-7a0e9438c878406e9fecd4e373548991 |
| institution | Directory Open Access Journal |
| issn | 2213-1582 |
| language | English |
| last_indexed | 2024-12-22T04:28:17Z |
| publishDate | 2019-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | NeuroImage: Clinical |
| spelling | doaj.art-7a0e9438c878406e9fecd4e3735489912022-12-21T18:39:06ZengElsevierNeuroImage: Clinical2213-15822019-01-0124Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1Garazi Labayru0Ibai Diez1Jorge Sepulcre2Esther Fernández3Miren Zulaica4Jesús M. Cortés5Adolfo López de Munain6Andone Sistiaga7Neuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, Spain; Personality, Assessment and psychological treatment department; Psychology Faculty, University of the Basque Country (UPV/EHU), San Sebastian, Gipuzkoa, Spain; Corresponding author.Gordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States; Neurotechnology Laboratory, Tecnalia Health Department, Derio, SpainGordon Center for Medical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United StatesNeuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Osatek, Donostia University Hospital, Donostia-San Sebastian, Gipuzkoa, Spain; Radiolody Department, University of the Basque Country (UPV/EHU), Donostia-San Sebastian, Gipuzkoa, SpainNeuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, SpainBiocruces Health Research Institute. Hospital Universitario de Cruces, Barakaldo, Spain; Cell Biology and Histology Department, University of the Basque Country (UPV/EHU), Leioa, Spain; IKERBASQUE, The Basque Foundation for Science, Bilbao, SpainNeuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, Spain; Neurology Department, Donostia University Hospital, Donostia-San Sebastian, Gipuzkoa, Spain; Neurosciences Department, University of the Basque Country (UPV/EHU), Donostia-San Sebastian, Gipuzkoa, SpainNeuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, Spain; Personality, Assessment and psychological treatment department; Psychology Faculty, University of the Basque Country (UPV/EHU), San Sebastian, Gipuzkoa, SpainBackground: Myotonic Dystrophy type 1 (DM1) is a slowly progressive myopathy characterized by varying multisystemic involvement. Several cerebral features such as brain atrophy, ventricular enlargement, and white matter lesions (WMLs) have frequently been described. The aim of this study is to investigate the structural organization of the brain that defines the disease through multimodal imaging analysis, and to analyze the relation between structural cerebral changes and DM1 clinical and neuropsychological profiles. Method: 31 DM1 patients and 57 healthy controls underwent an MRI scan protocol, including T1, T2 and DTI. Global gray matter (GM), global white matter (WM), and voxel-level Voxel Based Morphometry (VBM) and voxel-level microstructural WM abnormalities through Diffusion Tensor Imaging (DTI) were assessed through group comparisons and linear regression analysis with age, degree of muscular impairment (MIRS score), CTG expansion size and neuropsychological outcomes from a comprehensive assessment. Results: Compared with healthy controls, DM1 patients showed a reduction in both global GM and WM volume; and further regional GM decrease in specific primary sensory, multi-sensory and association cortical regions. Fractional anisotropy (FA) was reduced in both total brain and regional analysis, being most marked in frontal, paralimbic, temporal cortex, and subcortical regions. Higher ratings on muscular impairment and longer CTG expansion sizes predicted a greater volume decrease in GM and lower FA values. Age predicted global GM reduction, specifically in parietal regions. At the cognitive level, the DM1 group showed significant negative correlations between IQ estimate, visuoconstructive and executive neuropsychological scores and both global and regional volume decrease, mainly distributed in the frontal, parietal and subcortical regions. Conclusions: In this study, we describe the structural brain signatures that delineate the involvement of the CNS in DM1. We show that specific sensory and multi-sensory — as well as frontal cortical areas — display potential vulnerability associated with the hypothesized neurodegenerative nature of DM1 brain abnormalities. Keywords: Myotonic Dystrophy Type 1, MRI, VBM, DTI, neuropsychologyhttp://www.sciencedirect.com/science/article/pii/S2213158219304255 |
| spellingShingle | Garazi Labayru Ibai Diez Jorge Sepulcre Esther Fernández Miren Zulaica Jesús M. Cortés Adolfo López de Munain Andone Sistiaga Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 NeuroImage: Clinical |
| title | Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 |
| title_full | Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 |
| title_fullStr | Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 |
| title_full_unstemmed | Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 |
| title_short | Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1 |
| title_sort | regional brain atrophy in gray and white matter is associated with cognitive impairment in myotonic dystrophy type 1 |
| url | http://www.sciencedirect.com/science/article/pii/S2213158219304255 |
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