Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1
The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life. This study, based on the assessment of brain connectivity and mechanisms of plasticity, aimed at reconciling...
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doaj-447b07acdd3e4f2ebcc3db1e7ec85f892020-11-24T23:04:21ZengHindawi LimitedNeural Plasticity2090-59041687-54432016-01-01201610.1155/2016/26960852696085Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1Laura Serra0Matteo Mancini1Gabriella Silvestri2Antonio Petrucci3Marcella Masciullo4Barbara Spanò5Mario Torso6Chiara Mastropasqua7Manlio Giacanelli8Carlo Caltagirone9Mara Cercignani10Giovanni Meola11Marco Bozzali12Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyNeuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyDepartment of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Largo Agostino Gemelli 8, 00168 Rome, ItalyUOC Neurologia e Neurofisiopatologia, AO San Camillo Forlanini, Via Portuense 332, 00149 Rome, ItalySPInal REhabilitation Lab (SPIRE), IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyNeuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyNeuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyNeuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyUOC Neurologia e Neurofisiopatologia, AO San Camillo Forlanini, Via Portuense 332, 00149 Rome, ItalyDepartment of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyClinical Imaging Sciences Centre, Brighton & Sussex Medical School, University of Sussex, Falmer, Brighton, East Sussex BN1 9RR, UKDepartment of Neurology, IRCCS Policlinico San Donato, University of Milan, Via Morandi 30, San Donato Milanese, 20097 Milan, ItalyNeuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, ItalyThe adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life. This study, based on the assessment of brain connectivity and mechanisms of plasticity, aimed at reconciling these conflicting issues. Resting-state functional MRI and graph theoretical methods of analysis were used to assess brain topological features in a large cohort of patients with DM1. Patients, compared to controls, revealed reduced connectivity in a large frontoparietal network that correlated with their isolated impairment in visuospatial reasoning. Despite a global preservation of the topological properties, peculiar patterns of frontal disconnection and increased parietal-cerebellar connectivity were also identified in patients’ brains. The balance between loss of connectivity and compensatory mechanisms in different brain networks might explain the paradoxical mismatch between structural brain damage and minimal cognitive deficits observed in these patients. This study provides a comprehensive assessment of brain abnormalities that fit well with both motor and nonmotor clinical features experienced by patients in their everyday life. The current findings suggest that measures of functional connectivity may offer the possibility of characterizing individual patients with the potential to become a clinical tool.http://dx.doi.org/10.1155/2016/2696085 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Laura Serra Matteo Mancini Gabriella Silvestri Antonio Petrucci Marcella Masciullo Barbara Spanò Mario Torso Chiara Mastropasqua Manlio Giacanelli Carlo Caltagirone Mara Cercignani Giovanni Meola Marco Bozzali |
spellingShingle |
Laura Serra Matteo Mancini Gabriella Silvestri Antonio Petrucci Marcella Masciullo Barbara Spanò Mario Torso Chiara Mastropasqua Manlio Giacanelli Carlo Caltagirone Mara Cercignani Giovanni Meola Marco Bozzali Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 Neural Plasticity |
author_facet |
Laura Serra Matteo Mancini Gabriella Silvestri Antonio Petrucci Marcella Masciullo Barbara Spanò Mario Torso Chiara Mastropasqua Manlio Giacanelli Carlo Caltagirone Mara Cercignani Giovanni Meola Marco Bozzali |
author_sort |
Laura Serra |
title |
Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 |
title_short |
Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 |
title_full |
Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 |
title_fullStr |
Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 |
title_full_unstemmed |
Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 |
title_sort |
brain connectomics’ modification to clarify motor and nonmotor features of myotonic dystrophy type 1 |
publisher |
Hindawi Limited |
series |
Neural Plasticity |
issn |
2090-5904 1687-5443 |
publishDate |
2016-01-01 |
description |
The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life. This study, based on the assessment of brain connectivity and mechanisms of plasticity, aimed at reconciling these conflicting issues. Resting-state functional MRI and graph theoretical methods of analysis were used to assess brain topological features in a large cohort of patients with DM1. Patients, compared to controls, revealed reduced connectivity in a large frontoparietal network that correlated with their isolated impairment in visuospatial reasoning. Despite a global preservation of the topological properties, peculiar patterns of frontal disconnection and increased parietal-cerebellar connectivity were also identified in patients’ brains. The balance between loss of connectivity and compensatory mechanisms in different brain networks might explain the paradoxical mismatch between structural brain damage and minimal cognitive deficits observed in these patients. This study provides a comprehensive assessment of brain abnormalities that fit well with both motor and nonmotor clinical features experienced by patients in their everyday life. The current findings suggest that measures of functional connectivity may offer the possibility of characterizing individual patients with the potential to become a clinical tool. |
url |
http://dx.doi.org/10.1155/2016/2696085 |
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