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Neural Plasticity
Volume 2016, Article ID 2696085, 10 pages
Research Article

Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

1Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, Italy
2Department of Engineering, “Roma Tre” University, Via Vito Volterra 62, 00154 Rome, Italy
3Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Largo Agostino Gemelli 8, 00168 Rome, Italy
4UOC Neurologia e Neurofisiopatologia, AO San Camillo Forlanini, Via Portuense 332, 00149 Rome, Italy
5SPInal REhabilitation Lab (SPIRE), IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, Italy
6Department of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Via Ardeatina 306, 00179 Rome, Italy
7Department of Neuroscience, University of Rome “Tor Vergata”, Via Montpellier No. 1, 00133 Rome, Italy
8Clinical Imaging Sciences Centre, Brighton & Sussex Medical School, University of Sussex, Falmer, Brighton, East Sussex BN1 9RR, UK
9Department of Neurology, IRCCS Policlinico San Donato, University of Milan, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy

Received 8 January 2016; Accepted 17 April 2016

Academic Editor: Zygmunt Galdzicki

Copyright © 2016 Laura Serra et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.